Polycystic
Kidney Disease
Morton A. Bosniak, M.D., and Marjorie A. Ambos, M.D.
P
OLYCYSTIC kidney disease represents a group of conditions that are banded together because of certain pathologic similarities but are a collection of different entities that have diverse clinical and radiologic presentations. In this article we will follow the Elkin and Bernstein classification12 (Table 4 of Dr. Elkin’s article on page 101 of this Seminar) and discuss polycystic disease of the young (infantile polycystic kidney disease), including the newborn and childhood forms, and adult polycystic disease in sequence. POLYCYSTIC DISEASE OF THE (INFANTILE POLYCYSTIC KIDNEY DISEASE)
YOUNG
It is now generally accepted that infantile polycystic disease is a distinct entity. Within the infantile group there is a wide spectrum of presentations. At the two poles are the newborn form, which presents at birth or soon thereafter predominantly with renal disease, and the childhood form in which hepatic disease is the most important feature and which usually occurs later in childhood. However, there are many youngsters who have some features of both these forms of infantile polycystic kidney disease and fall in place somewhere between these two poles. Infantile Form Infantile polycystic disease is relatively uncommon, occurring once in 6,000 to 14,000 births. It is seen more commonly in females, with a ratio of 2 : 1. The disease is inherited as an autosomal recessive.s~‘2~‘7 The etiology is unknown, but many theories have been postulated as to the pathogenesis. Currently the most widely accepted is the one developed by Potter, which states that hyperplasia of the interstitial portions of the collecting ducts occurs, leading to saccular and cylindrical cystic enlargement of the collecting tubules.* Infantile polycystic kidney is included in the Potter type I Morton A. Bosniak, M.D.: Professor of Radiology; Marjorie A. Ambos, M.D.: Instructor in Radiology; Department of Radiology, New York University Center, 550 First Ave., New York, N. Y. 10016. 0 I975 by Grune & Stratton, Inc. Seminars
in Roentgenology,
Vol. X, No. 2 (April),
Medical
1975
classification of renal cystic disease (see Table 1, page 100 in this Seminar). Pathologic findings. The most prominent pathologic alteration is in the kidneys, which are always large and may be massive.12 However, they maintain their reniform shape and have a relatively smooth contour with normal lobulations, in contrast to adult polycystic disease. The cut surfaces have a spongy appearance and there is no normal parenchyma visible.16 The outer surface is studded with small cysts that extend from the capsule through the cortex and medulla to the pelvis. Again, in distinction to the adult form, the cysts tend to be small and of relatively uniform size. Cyst fluid ranges from clear to yellow, but if there has been hemorrhage it may be brown.16127,36 Microscopically the cysts are seen to represent dilated tubules and nephrons. The most extensive involvement is in the tubules, and there is lesser dilatation of the glomeruli and nephrons. The collecting ducts are ectatic throughout the medulla and papilla.i2 In almost all cases, the liver is enlarged and multiple epithelial hepatic cysts are present throughout. Periportal fibrosis and dilated bile ductules are also invariably found.‘6,25 Clinical findings. In the majority of cases the disease presents in the first days of life (newborn form). The kidneys may be so large that they actually obstruct delivery. There may be evidence of oligohydramnious. At birth there are bilateral nodular flank masses and a protuberant abdomen.‘*17 The liver is generally enlarged. The infant has Potter facies. Most babies die in the first days from uremia. In several studies the commonest cause of death was respiratory distress secondary to compression of the thoracic contents from the abdominal viscera, congestive failure, or pneumonia.s~7~27 Those who survive the first days develop progressive renal failure with inability to concentrate urine, and hypertension with left ventricular hypertrophy. There is also failure to thrive. In those who survive over a month, hypertension may be the major clinical problem.*5*25 Several authors have reported survivors into early childhood.‘j In these children the course is variable. Frequently the kidneys become smaller 133
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after a year, although there is progressive azotemia. These cases may be difficult to differentiate from children with adult polycystic disease. In the children with this form of polycystic kidney disease who survive, the hepatic disease becomes more prominent, with increasing fibrosis and portal hypertension.6 This group then falls into the childhood form of polycystic disease of the young. In familial studies, it has been found that there is no crossover within a family as to the form the polycystic disease takes. If a child presents at birth and dies in the first days of life, all affected children in the family do the same. If in another family the presentation of polycystic disease is later, then all affected members show this later onset.6 Roentgen findings. In the newborn form of the disease, there are bilaterally enlarged kidneys on the plain film of the abdomen. Renal function may be too poor to show the collecting system on urography. Usually the nephrogram shows a radiolucent mottled appearance from stasis of the contrast in the cystic nephrons. The nephrogram phase is prolonged. 16,17It is this mottled nephrogram that is the most common and typical finding on the intravenous urogram of the neonatal cases
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(Fig. 1). There may be visualization of the collecting system with a “brush-border” appearance in the papilla secondary to dilated tubules, resembling adult medullary sponge kidneys. The calyces may visualize poorly on delayed films and may appear blunted.‘7~‘8~25 The combination of clinical and urographic findings, especially the spotty and streaky nephrogram, is characteristic of the newborn form of polycystic disease of the young. Bilateral Wilm’s tumors and hydronephrosis can be ruled out by the urographic findings, although retrograde pyelography may occasionally be necessary to adequately visualize the renal structures. Multicystic kidneys are generally unilateral. In the older child, renal leukemic infiltration or lymphoma may enlarge the kidneys and stretch the calyces, but the clinical differentiation is not a problem. Childhood Form Pathologic findings. The childhood form of infantile polycystic diseaseis first seen in later childhood, but has great variation in age of onset of clinical presentation and in severity of renal and hepatic pathology. In general, the cystic changes in
’
polycysFig. 1. Infantile tic kidney disease. A l-yr-old was asymptomatic boy studied because large abdominal masses were patpated. BUN was normal. On urogram. intravenous the each kidney measures 9.5 cm Characteristic in length. streaky densities leading to the calyceal tips are seen throughout both kidneys. There is only minimal distortion of the celyces. These considered findings are classic for infantile polycystic kidneys.
POLYCYSTIC
KIDNEY
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DISEASE
the liver and kidneys are less striking, and hepatic fibrosis is greater.’ The kidneys, though variably enlarged, are never as massive as in the newborn form, and they are less deformed by the cysts, which are fewer in number but especially prominent in the medulla, referred to as medullary tubular ectasia.5a6’12 Hepatosplenomegaly develops. Periportal fibrosis is the predominant feature of the hepatic involvement. The liver parenchyma is itself normal. There is an abnormal development of the interlobular bile ducts leading to saccular dilatations of the biliary tree.7p25When the fibrosis is severe it leads to portal hypertension with esophageal and gastric varices. Clinical findings. In these children, the hepatic abnormalities cause the major clinical problems. They present at 3 to 5 yr of age or later with a protuberant abdomen and palpable liver and spleen. They frequently have portal hypertension. Sometimes the first presentation is with massive upper gastrointestinal bleeding from varices. When the portal hypertension is severe, portacaval shunt may be necessary.6”2925 The renal disease is usually mild, but occasionally there is progressive azotemia. This is often complicated by repeated infections leading to chronic pyelonephritis, which acts to further diminish renal function.” Roentgen findings. On urography, there may be splaying of the calyces secondary to cysts, but generally the pelvicalyceal system is normal.
Fig. 2. Infantile polycystic kidney disease. This 3-yr-old boy entered the hospital because of hematuria. BUN and creatinina were normal. Intravenous urogram shows greatly enlarged kidneys with distortion of the calyces, infundibular structures, and pelves. Note the streaky densities associated with the renal medullary areas, indicating cystic dilatation of the tubules characteristic of this condition.
Medullary tubular ectasia leads to stasis of contrast medium in the dilated ducts in the papillae, and gives a “brush-border” appearance like that seen in adult medullary sponge kidney12T25 (Fig. 2). Differentiation from the adult form of polycystic kidney disease manifested in childhood may be difficult. The typical mottled nephrogram or medullary striations of newborn or childhood polycystic kidney disease requires good urographic filling. In its absence the differentiation may be made by family history or by the presence of fibrosis or cystic disease on percutaneous liver biopsy. Berdon3 emphasizes that if an infant presents with a urogram with multiple masses that resembles the adult polycystic disease pattern, the diagnosis of tuberous sclerosis should also be considered. The cutaneous and neurologic findings in this disease may not be manifested early in life, and some patients may never develop them. The differentiation should be made by angiography, since the hamartomas of tuberous sclerosis are vascular. However, it may be difficult to get a good angiogram on a very young patient, and a few cases of tuberous sclerosis with cystic kidneys without hamartomas have been reported.38 Comment Polycystic disease of the young (infantile polycystic disease) makes up a group of patients with a
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variable pattern of involvement that only recently is beginning to be understood. In this regard the work of Blyth and Ockendon6 is helpful to explain the various patterns of infantile polycystic disease. These authors have divided the infantile polycystic kidney cases into four groups. Group I are those infants that have severe renal disease at the time of birth and are stillborn or die in the first few days of life due to uremia or respiratory failure because of huge kidney size. These infants have 90% or more of their tubules affected by cystic disease. Group II infants have about 60% of their tubules affected by cystic disease. They will also die of uremia, since they have more normal renal tissue but they usually live somewhat longer. They eventually die in the first or second year of life of renal failure. Group III infants have about 25% of the renal tubules affected by cystic disease. These infants may live longer and may have no renal symptoms, although they usually have hypertension and chronic renal failure. They may show signs of hepatic fibrosis and eventually get into trouble because of this complication. The Group IV infants have only about 10% of their tubules cystic and may therefore have little in the way of renal disease. However, this group has more severe hepatic fibrosis, leading to portal hypertension and varices. These patients live longer than the other groups but eventually suffer from the complications of the hepatic disease. Groups I and II mostly fit into the category of polycystic disease of the newborn, while Groups III and IV fit into the category of polycystic disease of childhood, characterized by medullary tubular ectasia and hepatic fibrosis. To conclude, it usually takes a combination of clinical, genetic, radiologic, and pathologic criteria to decide into which group a child with cystic disease of the kidneys will ultimately belong. ADULT
POLYCYSTIC
KIDNEY
DISEASE
The adult form of polycystic kidney disease is more common than the infantile form, presenting in about one individual per thousand. Because it may not cause clinical problems, the incidence is somewhat higher on necropsy studies, ranging from 1 per 3.50 to 1 per 620.38 It is inherited as an autosomal dominant with a high penetrance. There is no sex predilection.8 The etiology is unknown, but several theories have been advanced. It may be a failure of the
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uriniferous tubules, of nephrogenic blastema origin, to connect with the collecting tubules, of ureteric bud origin8 More recently it has been postulated that a toxic metabolite, diphenylamine, causescystic changes in the collecting tubules.g Pathologic findings. Gross examination of the kidneys shows them to be bilaterally enlarged, but often asymmetrical. In one study, a fourth of the caseshad one kidney that was 30% larger than the other. Even when massively enlarged, they may maintain their reniform shape.8~‘2,20The kidneys usually have a nodular surface, with multiple cysts replacing most of the normal parenchyma. These cysts may contain serous fluid, blood, or urine. It has been noted that symptomatic patients have kidneys about twice the weight of those from asymptomatic individuals with the disease.8~20~21 In Osathanondh and Potter’s classification, based on microdissection studies, adult polycystic disease falls under type 3. Adult-type polycystic disease is not uniform in distribution and has areasof normal and abnormal tissue intermixed. Any portion of the nephron or collecting tubule may be enlarged and cystic, so that there are cysts throughout both the cortex and the medulla.12 Most commonly, cysts are found in Bowman’s space and the angle of the loop of Henle. Three types of cyst occur: glomerular, which are closed units, and tubular and excretory, both of which are of the communicating or open type. The cysts become larger with age. There may also be calyceal abnormalities and the papillae may be absent.8J0’22 Clinical course. Most authors feel that the adult form of the disease may occur in childhood. Potter’s studies have shown that in children the changes are pathologically identical to those in adults, except for the effects of age.13 In the majority of patients, the diseasebecomes clinically manifested in the fourth or fifth decade. In one large series, the average age of onset was 47.2 yr. There are three main stages of progression: the asymptomatic (with the diagnosis made by chance), the symptomatic, and the uremic. The rate of progression is variable, ranging from slowly progressive to fulminant. Within members of a family it tends to progress in a similar manner.s Hatfield notes that 32 of 58 affected persons were asymptomatic, and of these 27 survived to the eighth decade. However, the larger the cysts the more likely symptoms are to develop.” The presenting symptoms include abdominal,
POLYCYSTIC
KIDNEY
DISEASE
lumbar, or loin pain, hematuria, urinary-tract infection, hypertension, weight loss, vomiting, and abdominal swelling. 38 On physical examination, Dalgaard’ found that in 64% both kidneys were palpable and in 36% only one kidney was palpable. He also found 75% had proteinuria, usually mild, and 46% had pyuria and bacteriuria. There have been two cases reported where protein loss was so great that the nephrotic syndrome developed.’ Poor prognostic signs are hypertension, hematuria, and uremia.37 Once uremia develops, death occurs within 4 yr.’ However, there can be a prolonged course with uremia if hypertension is not associated?’ The most frequent complications are infection and calculi, mainly secondary to stasis within the collecting system (Fig. 3). Inflammatory processes include pyelonephritis, infection of the cysts, and abscess formation. Calculi leading to colicky pain were found in 18% in Dalgaard’s series.* Other complications include cyst rupture, uncontrollable hemorrhage, and compression of the ureter by the larger cysts.8 Survival from the onset of symptoms is generally less than 10 yr?’ Average age at death is about 50 yr. The most common causes of death were uremia (59%), cerebral hemorrhage (13%), and cardiac disease (6%).8,37 Roentgen findings. The majority of cases of polycystic kidney disease can be accurately diag-
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nosed by urography. With larger cysts the urogram shows characteristic changes. The large kidneys usually maintain a reniform shape. Their outline may be scalloped or knobby and the axis may be shifted?T’2y36 High-dose urography or nephrotomography best show the renal outlines and demonstrate the multiple cystic lucencies in the nephrogram phase15 (Fig. 4). Pressure deformities on the calyces cause them to be elongated, slender, and curved, giving them a spidery appearance. The ends may be clubbed or flask-shaped. Cysts also cause pressure defects on the pelvis and occasionally the ureter .8*36 Early cases, with small cysts, are better demonstrated by nephrotomography or angiography and may be missed if only urography is performed (Figs. 5 and 6). Here there may be no defects or distortions of the calyces on the urogram, and the kidneys may not be grossly enlarged. Indications for angiography include patients with a suspicious urogram, those with a positive family history and negative urogram but who are felt to require further work-up, and those in whom associated renal carcinoma or renal artery stenosis is suspected.14 The nephrogram phase shows a mottled, Swisscheese appearance secondary to the cysts. The small cysts may range from a few mm to l-2 cm in diameter and cause no stretching of vessels. Larger cysts stretch the intrarenal vessels, and there is a
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Fig. 4. Polycystic disease of kidneys and liver presenting as hepatomegaly. This 48-yr-old female had a huge nodular liver. (A) Liver scan (performed with ccmlc-sulfur colloid) shows multiple filling defects “in a huge liver, consistent with metastatic disease.” (6) Intravenous urogram revealed polycystic kidneys. The explanation for the large liver then became obvious. The mottled areas of lucency and density overlying the kidneys as well as the entire abdomen represent multiple cystic areas in the two kidneys and the large overlying liver.
decrease in the terminal branching’5T19Y29~38 (Fig. 7). Isotopic studies are a simple screening device and may also be used in those allergic to radiographic contrast material. On renal scan (Hg) multiple filling defects are seen.22 Ultrasound may complement the scan by demonstrating the cystic nature of the lesions.38 In one renogram study (13’1), 7 of 14 patients showed prolongation of the excretory phase.”
Associated conditions, Hepatic cysts occur in approximately a third of patients with adult polycystic kidney disease (Fig. 4). In autopsy series, 43% of patients with polycystic kidneys had concomitant liver cysts, and 53% of those with hepatic cysts had polycystic kidneys? In contradistinction to infantile polycystic renal disease, there is usually no periportal fibrosis or portal hypertension.” Symptoms due to the liver cysts are rare, and the cysts seldom disturb liver function.38 On
POLYCYSTIC
KIDNEY
DISEASE
Fig. 5. Early adult polycystic kidney disease diagnosed by angiography. This 15-yr-old girl had hypertension. The urogram was normal. A renal arteriogram was performed to rule out renovascular disease. The nephrogram phase of the right kidney is shown. Note the many small lucent areas, indicating multiple small cysts. Similar findings were noted on the left. A positive family history of polycystic kidney disease was subsequently elicited.
liver scan the larger cysts present as cold areas if they are greater than 2.5 cm in diameter (Fig. 4A).3’ An echogram will also demonstrate multiple cystic masses,23as will angiography (Figs. 4B and 8). There is a 9% incidence of pancreatic cysts,36 and cysts are also occasionally found in the lungs, spleen, ovaries, testes, epididymis, thyroid, uterus, and bladder.8,33 Since 1901, there have been 50 cases of intracranial berry aneurysms reported in patients with polycystic kidney disease. Of 173 autopsied patients with the disease, 11% were found to have aneurysms of the basal arteries of the brain.’ In another study, 20% of patients with polycystic kidneys had intracranial aneurysms, and 4% of those with aneurysms had polycystic kidneys.33 It is still in doubt as to whether the aneurysms are congenital or are secondary to hypertension. The prognosis is poor in those with hypertension and an aneurysm. Some authors believe that a young hypertensive patient with polycystic disease should have cerebral angiography. Conversely, if a young person is known to have a cerebral aneurysm, he should have a urogram.18920 There are reports of an association of neurofibromatosis and polycystic kidney disease. Siegel-
man reported such a case and feels there is a linkage of these diseases, both being of ectodermal origin.35 Seventeen cases of associated carcinoma of the kidney have been reported. Generally, these were not suspected prior to surgery, but suspicious signs include one kidney much larger than the other, hematuria, amputation of a calyx, and a dense mass.15T21P28Bilateral carcinomas in polycystic kidneys have also occurred. Angiography will generally show abundant neovascularity in the tumor.‘%%37 There have been reports in the literature of unilateral polycystic kidney, but the existence of this entity is questioned. In many of these reports, the condition of the other kidney is not well described, and since there may be asymmetry, the possibility that the contralateral kidney is involved to a lesser extent is a valid suspicion.4*34 Differential diagnosis. Other renal diseasesmay occasionally mimic polycystic kidney disease, but thorough radiographic examination will lead to the correct diagnosis. Tuberous sclerosis with multiple hamartomas may distort the collecting system in a fashion quite similar to polycystic disease,but the neurologic and dermatologic findings as welI as the vascularity of these tumors on angiography should
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Fig. 6. Early radiographic manifestations of adult polycystic kidney disease in a young man with hypertension for 6 yr. His mother has polycystic kidneys and liver. (A) Intravenous urogram. The kidneys are normal in size and the contours are smooth. The collecting system of the left kidney is normal except for minimal splaying of the middle-pole calyx. On the right, however, small pressure defects with calyceal splaying are seen throughout. (B) Nephrogram phase of selective left renal arteriogram. The parenchyma is riddled with small cysts from pinhead size to 2 cm in diameter. (C) Nephrogram phase of selective right renal arteriogram. Multiple defects in the nephrogram indicate polycystic kidney disease. The cysts are larger on this side, which explains the calyceal deformities on the urogram. Incidentally, opacification of the right adrenal can be seen.
easily differentiate them.* Multicystic kidney usually presents in the neonate, and if bilateral it causes early death. The unilateral form may present in adult life, but the kidney does not have a reniform shape, there is no normal parenchyma, on angiography a normal renal artery is absent, and the ureter is often atretic.36 Bilateral neoplasms may mimic polycystic kidneys urographitally and require angiography for differentiation.’ Fibrolipomatosis can occasionally distort calyces,
but the excess fat is clearly seen on tomography so that the distinction rarely causesdifficulty.15 The most difficult differentiation is from multiple bilateral simple cysts. This condition usually shows more normal parenchyma, and renal insufficiency, hypertension, and positive family history are absent. On occasion, however, it may be impossible to differentiate the two diseases.‘5~20 Treatment. Prior to transplantation and dialysis, therapy for polycystic renal disease was palliative,
Fig. 7. Classic polycystic kidney disease with angiogrephy. This 30-yr-old man had numerous episodes of renal colic and passage of stones since the age of 18. Five years previously he had had laparotomy confirmation of polycystic kidneys. His blood pressure was normal, BUN 22, creatinine 1.8. His mother had polycystic kidney disease. (A) Intravenous urogram reveals the classic appearance of polycystic kidneys. The smooth kidney outlines have been penciled in. The kidneys measure 21 cm in length. (B) Selective right renal arteriogram demonstrates the classic findings of polycystic kidney disease. The parenchyma of the kidney is studded with cysts of varying size ranging from pinhead to 8 cm in diameter. There is little normal appearing peripherally and the cystic masses displace and stretch the intrarenal vessels.
parenchyma.
The arteries
are attenuated
Fig. 8. Polycystic liver and kidneys. This 37-yr-old woman had mild hypertension and a large liver. There was a family history of polycystic kidney disease. An intravenous urogram revealed slightly enlarged kidneys with some calyceal displacement. (A) Selective hepatic arteriogram (arterial phase). Many large lucent defects are seen throughout the liver. The intrahepatic vessels are displaced around these masses. Areas of increased density between the cysts are due to compressed liver tissue. IB) Hepatogram phase. Note the greatly enlarged liver filled with lucent defects.
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and results were poor and morbidity high.38 Cysts were sometimes punctured to relieve pressure. Surgery is still performed to relieve obstruction from cyst compression, to remove calculi, to drain abscesses,and to control hematuria.26 Renal transplants are more and more widely used. Polycystic disease makes up 4.7% of renal disease requiring transplants.32 As with all transplanted patients, the major complication is rejection. The polycystic group has a somewhat higher risk of rejection, since they frequently require cadaver kidneys because their relatives often also have the disease.24 In a study of 21 transplanted polycystics there was 80% survival and 70% excellent graft survival. The patient’s own kidneys are usually not removed unless there is severe infection or hemorrhage.7 ACKNOWLEDGMENTS The authors would like to thank Dr. Walter Berdon for the use of Figs. 1 and 2, Drs. Irwin Schlossberg and Robert Jason for Fig. 5, and Dr. Sacha Benjamin for Fig. 8, as well as Mr. George Ozaki for his photographic work.
REFERENCES 1. Ackerman GL: Nephrotic syndrome in polycystic renal disease. J Urol 105:7-9, 1971 2. Anderson D, Tannen RL: Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease. Am J Med 47:163-168, 1969 3. Berdon W: personal communication 4. Bergman H, Nehme DA: Unilateral polycystic renal disease. NY J Med 64:2465-2469, 1964 5. Bernstein J: Heritable cystic disorders of the kidney. The mythology of polycystic disease. Ped Clin North Am 18:435444,1971 6. Blyth H, Ockendon B: Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8:257284,1971 7. Case records of the Massachusetts General Hospital: N Engl J Med 290:676-683,1974 8. Dalgaard 0: Polycystic diseases of the kidney, in Strauss, Welt (eds): Diseases of the Kidney (ed 2). Boston, LittleBrown, 1971, pp 1223-1258 9. Darmady EM, Offer J, Woodhouse MA: Toxic metabolic defect in polycystic disease of the kidney. Evidence from microscopic studies. Lancet 1:547-550, 1970 10. DelGuercio E, Greco J, Kim KE, et al: Esophageal varices in adult patients with polycystic kidney and liver disease. N Engl J Med 289:678679, 1973 11. Doolittle KH: The radioisotope renogram in polycystic kidney disease. J Urol93:30-32, 1965 12. Elkin M, Bernstein J: Cystic diseases of the kidney -radiological and pathological considerations. Clin Radio1 20:65-82,1969
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13. Emmett J, Witten DM: Clinical Urography (ed 3). Philadelphia, WB Saunders, 1971, pp 982-983 14. Ettinger A, Kahn PC, Wise HM Jr: The importance of selective renal angiography in the diagnosis of polycystic disease. J Urol 102:156-161, 1969 15. Evans JA, Bosniak MA: The Kidney. Chicago, Year Book Medical Publishers, 197 1, pp 20-21 16. Gleason DC, McAlister WH, Kissane J: Cystic disease of the kidneys in children. Am J Roentgen01 100: 135-146, 1967 17. Greenberg LA, Altman DH, Litt RE: Cystic enlargement of the kidney in infancy. Radiology 89:850856,1967 18. Griscom NT: The roentgenology of neonatal abdominal masses. Am J Roentgen01 93:4471163, 1965 19. Halpern M, Dalrymple G, Young J: Thenephrogram in polycystic disease: An important radiographic sign. J Urol 103:21-23, 1970 20. Hatfield PM, Pfister RC: Adult polycystic disease of the kidneys (Potter type 3). JAMA 222:1527-1531, 1972 21. Howard RM, Young JD Jr: Two malignant tumors in a polycystic kidney. J Urol 102:162-164, 1969 22. Hurwitz RA, Weigel J: Polycystic kidney: A diagnostic study with continuous drip infusion pyelography, nephrotomography and renal scans. J Ural 94:639-649, 1965 23. Igawa K, Hiyagishi T: The use of scintillation and ultrasonic scanning to disclose polycystic kidneys and liver. J Urol 108:685-688, 1972 24. Lazarus JM, Bailey GL, Hampers CL, et al: Hemodialysis and transplantation in adults with polycystic renal disease. JAMA 217:1821-1824, 1971 25. Lieberman E, Salinas-Madrigal L, Gwinn JL, et al: Infantile polycystic disease of the kidneys and liver: Clinical, pathological, and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) 50:277-318, 1971 26. Lue YB, Anderson EE, Harrison JH: The surgical management of polycystic renal disease. Surg Gynecol Obstet 122:45-49,1966 27. Lundin PM, Olow I: Polycystic disease in newborns, infants and children. A clinical and pathological study. Acta Paediat 50:185-200, 1961 28. McFarland WL, Wallace S, Johnson DE: Renal carcinoma and polycystic disease. J Urol 107:530-532, 1972 29. Meaney TF, Corvalan JG: Angiographic diagnosis of polycystic renal disease. Cleveland Clin Quart 35: 79-84, 1968 30. Oreopoulos DG, Bell TK, McGeown MG: Liver function and the liver scan in patients with polycystic kidney disease. Br J Urol43:273-276, 1971 31. Roberts PF: Bilateral renal carcinoma associated with polycystic kidneys. Br Med .I 3:273-274, 1973 32. Salvatierra 0 Jr, Kountz SL, Belzer FO: Polycystic renal disease treated by renal transplantation. Surg GynecolObstet 137:431-434, 1973 33. Schoolman LR: Polycystic disease of the kidneys. Maryland Med J 15:37-42, 1966 34. Sellers AL, Winfield A, Rosen V: Unilateral polycystic kidney disease. J Urol 107:527-529, 1972
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35. Siegelman SS, Zavod R, Hecht H: Neurofibromatosis, polycystic kidneys, and hypernephroma. NY State J Med 71:2431-2433,197l 36. Spence H: Congenital unilateral multicystic kidney: An entity to be distinguished from polycystic kidney disease and other cystic disorders. J Urol 74:693-706, 1955
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37. Ward JN, Draper JW, Lavengood RW Jr: A clinical review of polycystic kidney disease in fifty-three patients. J Urol98:48-53,1967 38. Wright FW, Ledingham JGG, Dunnill MS, et al: Polycystic kidneys, renal hamartomas, their variants and complications. Clin Radio1 25:2743, 1974
Kidney Disease
Morton A. Bosniak, M.D., and Marjorie A. Ambos, M.D.
P
OLYCYSTIC kidney disease represents a group of conditions that are banded together because of certain pathologic similarities but are a collection of different entities that have diverse clinical and radiologic presentations. In this article we will follow the Elkin and Bernstein classification12 (Table 4 of Dr. Elkin’s article on page 101 of this Seminar) and discuss polycystic disease of the young (infantile polycystic kidney disease), including the newborn and childhood forms, and adult polycystic disease in sequence. POLYCYSTIC DISEASE OF THE (INFANTILE POLYCYSTIC KIDNEY DISEASE)
YOUNG
It is now generally accepted that infantile polycystic disease is a distinct entity. Within the infantile group there is a wide spectrum of presentations. At the two poles are the newborn form, which presents at birth or soon thereafter predominantly with renal disease, and the childhood form in which hepatic disease is the most important feature and which usually occurs later in childhood. However, there are many youngsters who have some features of both these forms of infantile polycystic kidney disease and fall in place somewhere between these two poles. Infantile Form Infantile polycystic disease is relatively uncommon, occurring once in 6,000 to 14,000 births. It is seen more commonly in females, with a ratio of 2 : 1. The disease is inherited as an autosomal recessive.s~‘2~‘7 The etiology is unknown, but many theories have been postulated as to the pathogenesis. Currently the most widely accepted is the one developed by Potter, which states that hyperplasia of the interstitial portions of the collecting ducts occurs, leading to saccular and cylindrical cystic enlargement of the collecting tubules.* Infantile polycystic kidney is included in the Potter type I Morton A. Bosniak, M.D.: Professor of Radiology; Marjorie A. Ambos, M.D.: Instructor in Radiology; Department of Radiology, New York University Center, 550 First Ave., New York, N. Y. 10016. 0 I975 by Grune & Stratton, Inc. Seminars
in Roentgenology,
Vol. X, No. 2 (April),
Medical
1975
classification of renal cystic disease (see Table 1, page 100 in this Seminar). Pathologic findings. The most prominent pathologic alteration is in the kidneys, which are always large and may be massive.12 However, they maintain their reniform shape and have a relatively smooth contour with normal lobulations, in contrast to adult polycystic disease. The cut surfaces have a spongy appearance and there is no normal parenchyma visible.16 The outer surface is studded with small cysts that extend from the capsule through the cortex and medulla to the pelvis. Again, in distinction to the adult form, the cysts tend to be small and of relatively uniform size. Cyst fluid ranges from clear to yellow, but if there has been hemorrhage it may be brown.16127,36 Microscopically the cysts are seen to represent dilated tubules and nephrons. The most extensive involvement is in the tubules, and there is lesser dilatation of the glomeruli and nephrons. The collecting ducts are ectatic throughout the medulla and papilla.i2 In almost all cases, the liver is enlarged and multiple epithelial hepatic cysts are present throughout. Periportal fibrosis and dilated bile ductules are also invariably found.‘6,25 Clinical findings. In the majority of cases the disease presents in the first days of life (newborn form). The kidneys may be so large that they actually obstruct delivery. There may be evidence of oligohydramnious. At birth there are bilateral nodular flank masses and a protuberant abdomen.‘*17 The liver is generally enlarged. The infant has Potter facies. Most babies die in the first days from uremia. In several studies the commonest cause of death was respiratory distress secondary to compression of the thoracic contents from the abdominal viscera, congestive failure, or pneumonia.s~7~27 Those who survive the first days develop progressive renal failure with inability to concentrate urine, and hypertension with left ventricular hypertrophy. There is also failure to thrive. In those who survive over a month, hypertension may be the major clinical problem.*5*25 Several authors have reported survivors into early childhood.‘j In these children the course is variable. Frequently the kidneys become smaller 133
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after a year, although there is progressive azotemia. These cases may be difficult to differentiate from children with adult polycystic disease. In the children with this form of polycystic kidney disease who survive, the hepatic disease becomes more prominent, with increasing fibrosis and portal hypertension.6 This group then falls into the childhood form of polycystic disease of the young. In familial studies, it has been found that there is no crossover within a family as to the form the polycystic disease takes. If a child presents at birth and dies in the first days of life, all affected children in the family do the same. If in another family the presentation of polycystic disease is later, then all affected members show this later onset.6 Roentgen findings. In the newborn form of the disease, there are bilaterally enlarged kidneys on the plain film of the abdomen. Renal function may be too poor to show the collecting system on urography. Usually the nephrogram shows a radiolucent mottled appearance from stasis of the contrast in the cystic nephrons. The nephrogram phase is prolonged. 16,17It is this mottled nephrogram that is the most common and typical finding on the intravenous urogram of the neonatal cases
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(Fig. 1). There may be visualization of the collecting system with a “brush-border” appearance in the papilla secondary to dilated tubules, resembling adult medullary sponge kidneys. The calyces may visualize poorly on delayed films and may appear blunted.‘7~‘8~25 The combination of clinical and urographic findings, especially the spotty and streaky nephrogram, is characteristic of the newborn form of polycystic disease of the young. Bilateral Wilm’s tumors and hydronephrosis can be ruled out by the urographic findings, although retrograde pyelography may occasionally be necessary to adequately visualize the renal structures. Multicystic kidneys are generally unilateral. In the older child, renal leukemic infiltration or lymphoma may enlarge the kidneys and stretch the calyces, but the clinical differentiation is not a problem. Childhood Form Pathologic findings. The childhood form of infantile polycystic diseaseis first seen in later childhood, but has great variation in age of onset of clinical presentation and in severity of renal and hepatic pathology. In general, the cystic changes in
’
polycysFig. 1. Infantile tic kidney disease. A l-yr-old was asymptomatic boy studied because large abdominal masses were patpated. BUN was normal. On urogram. intravenous the each kidney measures 9.5 cm Characteristic in length. streaky densities leading to the calyceal tips are seen throughout both kidneys. There is only minimal distortion of the celyces. These considered findings are classic for infantile polycystic kidneys.
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the liver and kidneys are less striking, and hepatic fibrosis is greater.’ The kidneys, though variably enlarged, are never as massive as in the newborn form, and they are less deformed by the cysts, which are fewer in number but especially prominent in the medulla, referred to as medullary tubular ectasia.5a6’12 Hepatosplenomegaly develops. Periportal fibrosis is the predominant feature of the hepatic involvement. The liver parenchyma is itself normal. There is an abnormal development of the interlobular bile ducts leading to saccular dilatations of the biliary tree.7p25When the fibrosis is severe it leads to portal hypertension with esophageal and gastric varices. Clinical findings. In these children, the hepatic abnormalities cause the major clinical problems. They present at 3 to 5 yr of age or later with a protuberant abdomen and palpable liver and spleen. They frequently have portal hypertension. Sometimes the first presentation is with massive upper gastrointestinal bleeding from varices. When the portal hypertension is severe, portacaval shunt may be necessary.6”2925 The renal disease is usually mild, but occasionally there is progressive azotemia. This is often complicated by repeated infections leading to chronic pyelonephritis, which acts to further diminish renal function.” Roentgen findings. On urography, there may be splaying of the calyces secondary to cysts, but generally the pelvicalyceal system is normal.
Fig. 2. Infantile polycystic kidney disease. This 3-yr-old boy entered the hospital because of hematuria. BUN and creatinina were normal. Intravenous urogram shows greatly enlarged kidneys with distortion of the calyces, infundibular structures, and pelves. Note the streaky densities associated with the renal medullary areas, indicating cystic dilatation of the tubules characteristic of this condition.
Medullary tubular ectasia leads to stasis of contrast medium in the dilated ducts in the papillae, and gives a “brush-border” appearance like that seen in adult medullary sponge kidney12T25 (Fig. 2). Differentiation from the adult form of polycystic kidney disease manifested in childhood may be difficult. The typical mottled nephrogram or medullary striations of newborn or childhood polycystic kidney disease requires good urographic filling. In its absence the differentiation may be made by family history or by the presence of fibrosis or cystic disease on percutaneous liver biopsy. Berdon3 emphasizes that if an infant presents with a urogram with multiple masses that resembles the adult polycystic disease pattern, the diagnosis of tuberous sclerosis should also be considered. The cutaneous and neurologic findings in this disease may not be manifested early in life, and some patients may never develop them. The differentiation should be made by angiography, since the hamartomas of tuberous sclerosis are vascular. However, it may be difficult to get a good angiogram on a very young patient, and a few cases of tuberous sclerosis with cystic kidneys without hamartomas have been reported.38 Comment Polycystic disease of the young (infantile polycystic disease) makes up a group of patients with a
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variable pattern of involvement that only recently is beginning to be understood. In this regard the work of Blyth and Ockendon6 is helpful to explain the various patterns of infantile polycystic disease. These authors have divided the infantile polycystic kidney cases into four groups. Group I are those infants that have severe renal disease at the time of birth and are stillborn or die in the first few days of life due to uremia or respiratory failure because of huge kidney size. These infants have 90% or more of their tubules affected by cystic disease. Group II infants have about 60% of their tubules affected by cystic disease. They will also die of uremia, since they have more normal renal tissue but they usually live somewhat longer. They eventually die in the first or second year of life of renal failure. Group III infants have about 25% of the renal tubules affected by cystic disease. These infants may live longer and may have no renal symptoms, although they usually have hypertension and chronic renal failure. They may show signs of hepatic fibrosis and eventually get into trouble because of this complication. The Group IV infants have only about 10% of their tubules cystic and may therefore have little in the way of renal disease. However, this group has more severe hepatic fibrosis, leading to portal hypertension and varices. These patients live longer than the other groups but eventually suffer from the complications of the hepatic disease. Groups I and II mostly fit into the category of polycystic disease of the newborn, while Groups III and IV fit into the category of polycystic disease of childhood, characterized by medullary tubular ectasia and hepatic fibrosis. To conclude, it usually takes a combination of clinical, genetic, radiologic, and pathologic criteria to decide into which group a child with cystic disease of the kidneys will ultimately belong. ADULT
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The adult form of polycystic kidney disease is more common than the infantile form, presenting in about one individual per thousand. Because it may not cause clinical problems, the incidence is somewhat higher on necropsy studies, ranging from 1 per 3.50 to 1 per 620.38 It is inherited as an autosomal dominant with a high penetrance. There is no sex predilection.8 The etiology is unknown, but several theories have been advanced. It may be a failure of the
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uriniferous tubules, of nephrogenic blastema origin, to connect with the collecting tubules, of ureteric bud origin8 More recently it has been postulated that a toxic metabolite, diphenylamine, causescystic changes in the collecting tubules.g Pathologic findings. Gross examination of the kidneys shows them to be bilaterally enlarged, but often asymmetrical. In one study, a fourth of the caseshad one kidney that was 30% larger than the other. Even when massively enlarged, they may maintain their reniform shape.8~‘2,20The kidneys usually have a nodular surface, with multiple cysts replacing most of the normal parenchyma. These cysts may contain serous fluid, blood, or urine. It has been noted that symptomatic patients have kidneys about twice the weight of those from asymptomatic individuals with the disease.8~20~21 In Osathanondh and Potter’s classification, based on microdissection studies, adult polycystic disease falls under type 3. Adult-type polycystic disease is not uniform in distribution and has areasof normal and abnormal tissue intermixed. Any portion of the nephron or collecting tubule may be enlarged and cystic, so that there are cysts throughout both the cortex and the medulla.12 Most commonly, cysts are found in Bowman’s space and the angle of the loop of Henle. Three types of cyst occur: glomerular, which are closed units, and tubular and excretory, both of which are of the communicating or open type. The cysts become larger with age. There may also be calyceal abnormalities and the papillae may be absent.8J0’22 Clinical course. Most authors feel that the adult form of the disease may occur in childhood. Potter’s studies have shown that in children the changes are pathologically identical to those in adults, except for the effects of age.13 In the majority of patients, the diseasebecomes clinically manifested in the fourth or fifth decade. In one large series, the average age of onset was 47.2 yr. There are three main stages of progression: the asymptomatic (with the diagnosis made by chance), the symptomatic, and the uremic. The rate of progression is variable, ranging from slowly progressive to fulminant. Within members of a family it tends to progress in a similar manner.s Hatfield notes that 32 of 58 affected persons were asymptomatic, and of these 27 survived to the eighth decade. However, the larger the cysts the more likely symptoms are to develop.” The presenting symptoms include abdominal,
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lumbar, or loin pain, hematuria, urinary-tract infection, hypertension, weight loss, vomiting, and abdominal swelling. 38 On physical examination, Dalgaard’ found that in 64% both kidneys were palpable and in 36% only one kidney was palpable. He also found 75% had proteinuria, usually mild, and 46% had pyuria and bacteriuria. There have been two cases reported where protein loss was so great that the nephrotic syndrome developed.’ Poor prognostic signs are hypertension, hematuria, and uremia.37 Once uremia develops, death occurs within 4 yr.’ However, there can be a prolonged course with uremia if hypertension is not associated?’ The most frequent complications are infection and calculi, mainly secondary to stasis within the collecting system (Fig. 3). Inflammatory processes include pyelonephritis, infection of the cysts, and abscess formation. Calculi leading to colicky pain were found in 18% in Dalgaard’s series.* Other complications include cyst rupture, uncontrollable hemorrhage, and compression of the ureter by the larger cysts.8 Survival from the onset of symptoms is generally less than 10 yr?’ Average age at death is about 50 yr. The most common causes of death were uremia (59%), cerebral hemorrhage (13%), and cardiac disease (6%).8,37 Roentgen findings. The majority of cases of polycystic kidney disease can be accurately diag-
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nosed by urography. With larger cysts the urogram shows characteristic changes. The large kidneys usually maintain a reniform shape. Their outline may be scalloped or knobby and the axis may be shifted?T’2y36 High-dose urography or nephrotomography best show the renal outlines and demonstrate the multiple cystic lucencies in the nephrogram phase15 (Fig. 4). Pressure deformities on the calyces cause them to be elongated, slender, and curved, giving them a spidery appearance. The ends may be clubbed or flask-shaped. Cysts also cause pressure defects on the pelvis and occasionally the ureter .8*36 Early cases, with small cysts, are better demonstrated by nephrotomography or angiography and may be missed if only urography is performed (Figs. 5 and 6). Here there may be no defects or distortions of the calyces on the urogram, and the kidneys may not be grossly enlarged. Indications for angiography include patients with a suspicious urogram, those with a positive family history and negative urogram but who are felt to require further work-up, and those in whom associated renal carcinoma or renal artery stenosis is suspected.14 The nephrogram phase shows a mottled, Swisscheese appearance secondary to the cysts. The small cysts may range from a few mm to l-2 cm in diameter and cause no stretching of vessels. Larger cysts stretch the intrarenal vessels, and there is a
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Fig. 4. Polycystic disease of kidneys and liver presenting as hepatomegaly. This 48-yr-old female had a huge nodular liver. (A) Liver scan (performed with ccmlc-sulfur colloid) shows multiple filling defects “in a huge liver, consistent with metastatic disease.” (6) Intravenous urogram revealed polycystic kidneys. The explanation for the large liver then became obvious. The mottled areas of lucency and density overlying the kidneys as well as the entire abdomen represent multiple cystic areas in the two kidneys and the large overlying liver.
decrease in the terminal branching’5T19Y29~38 (Fig. 7). Isotopic studies are a simple screening device and may also be used in those allergic to radiographic contrast material. On renal scan (Hg) multiple filling defects are seen.22 Ultrasound may complement the scan by demonstrating the cystic nature of the lesions.38 In one renogram study (13’1), 7 of 14 patients showed prolongation of the excretory phase.”
Associated conditions, Hepatic cysts occur in approximately a third of patients with adult polycystic kidney disease (Fig. 4). In autopsy series, 43% of patients with polycystic kidneys had concomitant liver cysts, and 53% of those with hepatic cysts had polycystic kidneys? In contradistinction to infantile polycystic renal disease, there is usually no periportal fibrosis or portal hypertension.” Symptoms due to the liver cysts are rare, and the cysts seldom disturb liver function.38 On
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Fig. 5. Early adult polycystic kidney disease diagnosed by angiography. This 15-yr-old girl had hypertension. The urogram was normal. A renal arteriogram was performed to rule out renovascular disease. The nephrogram phase of the right kidney is shown. Note the many small lucent areas, indicating multiple small cysts. Similar findings were noted on the left. A positive family history of polycystic kidney disease was subsequently elicited.
liver scan the larger cysts present as cold areas if they are greater than 2.5 cm in diameter (Fig. 4A).3’ An echogram will also demonstrate multiple cystic masses,23as will angiography (Figs. 4B and 8). There is a 9% incidence of pancreatic cysts,36 and cysts are also occasionally found in the lungs, spleen, ovaries, testes, epididymis, thyroid, uterus, and bladder.8,33 Since 1901, there have been 50 cases of intracranial berry aneurysms reported in patients with polycystic kidney disease. Of 173 autopsied patients with the disease, 11% were found to have aneurysms of the basal arteries of the brain.’ In another study, 20% of patients with polycystic kidneys had intracranial aneurysms, and 4% of those with aneurysms had polycystic kidneys.33 It is still in doubt as to whether the aneurysms are congenital or are secondary to hypertension. The prognosis is poor in those with hypertension and an aneurysm. Some authors believe that a young hypertensive patient with polycystic disease should have cerebral angiography. Conversely, if a young person is known to have a cerebral aneurysm, he should have a urogram.18920 There are reports of an association of neurofibromatosis and polycystic kidney disease. Siegel-
man reported such a case and feels there is a linkage of these diseases, both being of ectodermal origin.35 Seventeen cases of associated carcinoma of the kidney have been reported. Generally, these were not suspected prior to surgery, but suspicious signs include one kidney much larger than the other, hematuria, amputation of a calyx, and a dense mass.15T21P28Bilateral carcinomas in polycystic kidneys have also occurred. Angiography will generally show abundant neovascularity in the tumor.‘%%37 There have been reports in the literature of unilateral polycystic kidney, but the existence of this entity is questioned. In many of these reports, the condition of the other kidney is not well described, and since there may be asymmetry, the possibility that the contralateral kidney is involved to a lesser extent is a valid suspicion.4*34 Differential diagnosis. Other renal diseasesmay occasionally mimic polycystic kidney disease, but thorough radiographic examination will lead to the correct diagnosis. Tuberous sclerosis with multiple hamartomas may distort the collecting system in a fashion quite similar to polycystic disease,but the neurologic and dermatologic findings as welI as the vascularity of these tumors on angiography should
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Fig. 6. Early radiographic manifestations of adult polycystic kidney disease in a young man with hypertension for 6 yr. His mother has polycystic kidneys and liver. (A) Intravenous urogram. The kidneys are normal in size and the contours are smooth. The collecting system of the left kidney is normal except for minimal splaying of the middle-pole calyx. On the right, however, small pressure defects with calyceal splaying are seen throughout. (B) Nephrogram phase of selective left renal arteriogram. The parenchyma is riddled with small cysts from pinhead size to 2 cm in diameter. (C) Nephrogram phase of selective right renal arteriogram. Multiple defects in the nephrogram indicate polycystic kidney disease. The cysts are larger on this side, which explains the calyceal deformities on the urogram. Incidentally, opacification of the right adrenal can be seen.
easily differentiate them.* Multicystic kidney usually presents in the neonate, and if bilateral it causes early death. The unilateral form may present in adult life, but the kidney does not have a reniform shape, there is no normal parenchyma, on angiography a normal renal artery is absent, and the ureter is often atretic.36 Bilateral neoplasms may mimic polycystic kidneys urographitally and require angiography for differentiation.’ Fibrolipomatosis can occasionally distort calyces,
but the excess fat is clearly seen on tomography so that the distinction rarely causesdifficulty.15 The most difficult differentiation is from multiple bilateral simple cysts. This condition usually shows more normal parenchyma, and renal insufficiency, hypertension, and positive family history are absent. On occasion, however, it may be impossible to differentiate the two diseases.‘5~20 Treatment. Prior to transplantation and dialysis, therapy for polycystic renal disease was palliative,
Fig. 7. Classic polycystic kidney disease with angiogrephy. This 30-yr-old man had numerous episodes of renal colic and passage of stones since the age of 18. Five years previously he had had laparotomy confirmation of polycystic kidneys. His blood pressure was normal, BUN 22, creatinine 1.8. His mother had polycystic kidney disease. (A) Intravenous urogram reveals the classic appearance of polycystic kidneys. The smooth kidney outlines have been penciled in. The kidneys measure 21 cm in length. (B) Selective right renal arteriogram demonstrates the classic findings of polycystic kidney disease. The parenchyma of the kidney is studded with cysts of varying size ranging from pinhead to 8 cm in diameter. There is little normal appearing peripherally and the cystic masses displace and stretch the intrarenal vessels.
parenchyma.
The arteries
are attenuated
Fig. 8. Polycystic liver and kidneys. This 37-yr-old woman had mild hypertension and a large liver. There was a family history of polycystic kidney disease. An intravenous urogram revealed slightly enlarged kidneys with some calyceal displacement. (A) Selective hepatic arteriogram (arterial phase). Many large lucent defects are seen throughout the liver. The intrahepatic vessels are displaced around these masses. Areas of increased density between the cysts are due to compressed liver tissue. IB) Hepatogram phase. Note the greatly enlarged liver filled with lucent defects.
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and results were poor and morbidity high.38 Cysts were sometimes punctured to relieve pressure. Surgery is still performed to relieve obstruction from cyst compression, to remove calculi, to drain abscesses,and to control hematuria.26 Renal transplants are more and more widely used. Polycystic disease makes up 4.7% of renal disease requiring transplants.32 As with all transplanted patients, the major complication is rejection. The polycystic group has a somewhat higher risk of rejection, since they frequently require cadaver kidneys because their relatives often also have the disease.24 In a study of 21 transplanted polycystics there was 80% survival and 70% excellent graft survival. The patient’s own kidneys are usually not removed unless there is severe infection or hemorrhage.7 ACKNOWLEDGMENTS The authors would like to thank Dr. Walter Berdon for the use of Figs. 1 and 2, Drs. Irwin Schlossberg and Robert Jason for Fig. 5, and Dr. Sacha Benjamin for Fig. 8, as well as Mr. George Ozaki for his photographic work.
REFERENCES 1. Ackerman GL: Nephrotic syndrome in polycystic renal disease. J Urol 105:7-9, 1971 2. Anderson D, Tannen RL: Tuberous sclerosis and chronic renal failure. Potential confusion with polycystic kidney disease. Am J Med 47:163-168, 1969 3. Berdon W: personal communication 4. Bergman H, Nehme DA: Unilateral polycystic renal disease. NY J Med 64:2465-2469, 1964 5. Bernstein J: Heritable cystic disorders of the kidney. The mythology of polycystic disease. Ped Clin North Am 18:435444,1971 6. Blyth H, Ockendon B: Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8:257284,1971 7. Case records of the Massachusetts General Hospital: N Engl J Med 290:676-683,1974 8. Dalgaard 0: Polycystic diseases of the kidney, in Strauss, Welt (eds): Diseases of the Kidney (ed 2). Boston, LittleBrown, 1971, pp 1223-1258 9. Darmady EM, Offer J, Woodhouse MA: Toxic metabolic defect in polycystic disease of the kidney. Evidence from microscopic studies. Lancet 1:547-550, 1970 10. DelGuercio E, Greco J, Kim KE, et al: Esophageal varices in adult patients with polycystic kidney and liver disease. N Engl J Med 289:678679, 1973 11. Doolittle KH: The radioisotope renogram in polycystic kidney disease. J Urol93:30-32, 1965 12. Elkin M, Bernstein J: Cystic diseases of the kidney -radiological and pathological considerations. Clin Radio1 20:65-82,1969
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13. Emmett J, Witten DM: Clinical Urography (ed 3). Philadelphia, WB Saunders, 1971, pp 982-983 14. Ettinger A, Kahn PC, Wise HM Jr: The importance of selective renal angiography in the diagnosis of polycystic disease. J Urol 102:156-161, 1969 15. Evans JA, Bosniak MA: The Kidney. Chicago, Year Book Medical Publishers, 197 1, pp 20-21 16. Gleason DC, McAlister WH, Kissane J: Cystic disease of the kidneys in children. Am J Roentgen01 100: 135-146, 1967 17. Greenberg LA, Altman DH, Litt RE: Cystic enlargement of the kidney in infancy. Radiology 89:850856,1967 18. Griscom NT: The roentgenology of neonatal abdominal masses. Am J Roentgen01 93:4471163, 1965 19. Halpern M, Dalrymple G, Young J: Thenephrogram in polycystic disease: An important radiographic sign. J Urol 103:21-23, 1970 20. Hatfield PM, Pfister RC: Adult polycystic disease of the kidneys (Potter type 3). JAMA 222:1527-1531, 1972 21. Howard RM, Young JD Jr: Two malignant tumors in a polycystic kidney. J Urol 102:162-164, 1969 22. Hurwitz RA, Weigel J: Polycystic kidney: A diagnostic study with continuous drip infusion pyelography, nephrotomography and renal scans. J Ural 94:639-649, 1965 23. Igawa K, Hiyagishi T: The use of scintillation and ultrasonic scanning to disclose polycystic kidneys and liver. J Urol 108:685-688, 1972 24. Lazarus JM, Bailey GL, Hampers CL, et al: Hemodialysis and transplantation in adults with polycystic renal disease. JAMA 217:1821-1824, 1971 25. Lieberman E, Salinas-Madrigal L, Gwinn JL, et al: Infantile polycystic disease of the kidneys and liver: Clinical, pathological, and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) 50:277-318, 1971 26. Lue YB, Anderson EE, Harrison JH: The surgical management of polycystic renal disease. Surg Gynecol Obstet 122:45-49,1966 27. Lundin PM, Olow I: Polycystic disease in newborns, infants and children. A clinical and pathological study. Acta Paediat 50:185-200, 1961 28. McFarland WL, Wallace S, Johnson DE: Renal carcinoma and polycystic disease. J Urol 107:530-532, 1972 29. Meaney TF, Corvalan JG: Angiographic diagnosis of polycystic renal disease. Cleveland Clin Quart 35: 79-84, 1968 30. Oreopoulos DG, Bell TK, McGeown MG: Liver function and the liver scan in patients with polycystic kidney disease. Br J Urol43:273-276, 1971 31. Roberts PF: Bilateral renal carcinoma associated with polycystic kidneys. Br Med .I 3:273-274, 1973 32. Salvatierra 0 Jr, Kountz SL, Belzer FO: Polycystic renal disease treated by renal transplantation. Surg GynecolObstet 137:431-434, 1973 33. Schoolman LR: Polycystic disease of the kidneys. Maryland Med J 15:37-42, 1966 34. Sellers AL, Winfield A, Rosen V: Unilateral polycystic kidney disease. J Urol 107:527-529, 1972
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35. Siegelman SS, Zavod R, Hecht H: Neurofibromatosis, polycystic kidneys, and hypernephroma. NY State J Med 71:2431-2433,197l 36. Spence H: Congenital unilateral multicystic kidney: An entity to be distinguished from polycystic kidney disease and other cystic disorders. J Urol 74:693-706, 1955
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37. Ward JN, Draper JW, Lavengood RW Jr: A clinical review of polycystic kidney disease in fifty-three patients. J Urol98:48-53,1967 38. Wright FW, Ledingham JGG, Dunnill MS, et al: Polycystic kidneys, renal hamartomas, their variants and complications. Clin Radio1 25:2743, 1974
