0022-534 7/78/ 1205-0616$02. 00/0 Vol. 120, November
THE JOURNAL OF UROLOGY
Copyright© 1978 by The Williams & Wilkins Co.
Printed in U.S.A.
COMPUTED TOMOGRAPHY IN DIAGNOSIS OF INFANTILE POL YCYSTIC KIDNEY DISEASE RONALD RABINOWITZ,* ARTHUR J. SEGAL, H. K. MOHAN RAO
AND
AMBADAS PATHAK
From the Departments of Urology, Radiology and Pediatrics, Rochester General Hospital and the University of Rochester Medical Center, Rochester, New York
ABSTRACT
Computed tomography was used to confirm the diagnosis of infantile polycystic kidney disease in a critically ill premature newborn. This diagnostic modality provides a useful, non-invasive adjunct in infants with abdominal masses. The newborn with bilateral flank masses represents a diagnostic challenge. Physical examination, transillumination, excretory urogram (IVP),1 voiding cystourethrogram, ultrasonography,t-4 vanillyl mandelic acid determination and radionuclide scan5 contribute to the possible diagnoses of neuroblastoma, congenital mesoblastic nephroma, renal vein thrombosis, multicystic dysplastic kidney (Potter's type II A) and hydronephrosis secondary to urethral valves, megaureters with reflux, primary megaureters or ureteropelvic junction obstruction. However, these studies can be inconclusive in the differentiation of bilateral nephroblastomatosis, a disease amenable to chemotherapy and a disease that may progress to Wilms tumor from infantile polycystic kidney disease (Potter's type I). Herein we report on the use of computed tomography (CT) for diagnosis in a critically ill premature newborn. CASE REPORT
A male newborn, RGH 41-34-28, weighed 5 pounds, 12 ounces at birth after a 34-week gestation, complicated only by premature labor 24 hours before delivery. The mother had had 2 early spontaneous abortions. Although the I-minute Apgar score was 7 the newborn required oxygen and suctioning. He was transported to the Neonatal Intensive Care Unit at our hospital because of progressive respiratory distress. Blood pressure was 90/60, pulse was 140 and respirations (40 per minute) were controlled by a nasotracheal tube and a ventilator. Abdominal examination demonstrated huge bilateral reniform firm flank masses that did not transmit light. A voiding cystourethrogram was normal and there was no obstruction or reflux. An IVP showed huge kidneys, measuring 5 by 8 cm., with streaks of contrast material in the dilated tubules (fig. 1). Non-invasive confirmation of the diagnosis of congenital infantile polycystic kidney disease was obtained using a CT body scan (fig. 2). This study showed multiple water density masses causing the renal enlargement. The blood urea nitrogen increased to 46 mg./100 ml. and creatinine to 2.9 mg./100 ml. when the patient was 2 days old. Treatment became less aggressive because the diagnosis had been established by non-invasive techniques. The baby died when he was 68 hours old. Postmortem examination confirmed the diagnosis of the perinatal type of infantile polycystic kidney disease. All of the renal tubules were markedly and uniformly dilated. The hepatic bile ducts were irregularly dilated with minimal periportal fibrosis.
eral huge kidneys." Our patient had the most severe form of this disease, which is the perinatal type. 7 Bilateral huge renal masses are present at birth. Pathologically, more than 90 per cent of the renal tubules are involved but there is minimal hepatic periportal fibrosis. The baby is stillborn or death occurs a few days after birth. Had our patient remained in utero until term he probably would have been stillborn. The differential diagnosis of bilateral large kidneys includes neuroblastoma, renal vein thrombosis, multicystic dysplastic kidneys (Potter's type II A), congenital mesoblastic nephroma, nephroblastomatosis and hydronephrosis, in addition to infantile polycystic kidney disease (Potter's type I). 8 The initial physical, laboratory and radiologic studies include palpation, transillumination, vanillyl mandelic acid determination, IVP and voiding cystourethrogram. Ultrasound has been useful in differentiating marked hydronephrosis or multicystic dysplastic kidneys from infantile polycystic disease;; but the resolution is not adequate enough to differentiate it from bilateral Wilms tumors or its congeners, such as diffuse nephroblastomatosis. Not all newborns with infantile polycystic disease demonstrate the typical streaking appearance of contrast medium on the IVP. 8 When they later present with bilateral synchronous Wilms tumors it becomes apparent that the diagnosis in the
DISCUSSION
Congenital infantile polycystic kidney disease is a rare inherited autosomal recessive disorder characterized by bilatAccepted for publication March 3, 1978. * Requests for reprints: Division of Urology, Rochester General
Hospital, 1425 Portland Ave., Rochester, New York 14621.
FIG. 1. IVP when patient was 24 hours old 616
COMPUTED TOMOGRAPHY IN DIAGNOSIS OF INFANTILE POLYCYSTIC KIDNEY DISEASE
617
Fm. 2. CT scan shows massive bilateral renal enlargement secondary to markedly distended fluid filled tubules
newborn period was in reality diffuse nephroblastomatosis. 9 • 10 Although angiography is helpful biopsy is mandatory to make the diagnosis of nephroblastomatosis. However, when treating a critically ill premature newborn that potentially curable entity must definitely be ruled out in a non-invasive manner. Nephroblastomatosis consists of solid nodules of primitive metanephric epithelium. These nodules, which resemble small islands of Wilms tumor, are scattered throughout both kidneys in diffuse nephroblastomatosis. 9 Since these nodules are solid and similar in consistency to Wilms tumor CT can differentiate them from infantile polycystic disease. 11-13
6. 7. 8.
9.
REFERENCES
1. Dunbar, J. S. and Nogrady, B.: Excretory urography in the first year oflife. Radiol. Clin. N. Amer., 10: 367, 1972. 2. Goldberg, B. B., Capitanio, M. A. and Kirkpatrick, J. A.:
Ultrasonic evaluation of masses in pediatric patients. Amer. J. Roentgen., 116: 677, 1972. 3. Holder, T. M., Stuber, J. L. and Templeton, A. W.: Sonography as a diagnostic aid in the evaluation of abdominal masses in infants and children. J. Pediat. Surg., 7: 532, 1972. 4. Lee, T. G. and Blake, S.: Prenatal fetal and abdominal ultrasonography and diagnosis. Radiology, 124: 475, 1977. 5. Slutsky, L. J., Golimbu, M., Braunstein, P., Al-Askari, S.,
10. 11.
12. 13.
Genieser, N. and Golimbu, C.: Urographic imaging in neonatal period: radionuclide scan and x-ray. Urology, 10: 169, 1977. Osathanondh, V. and Potter, E. L.: Pathogenesis of polycystic kidneys. Survey of results ofmicrodissection. Arch. Path., 77: 510, 1964. Blyth, H. and Ockenden, B. G.: Polycystic disease of kidney and liver presenting in childhood. J. Med. Genet., 8: 257, 1971. Filmer, R. B. and Taxy, J. B.: Cysts of the kidney, renal dysplasia, and renal hypoplasia. In: Clinical Pediatric Urology. Edited by P. P. Kelalis and L. R. King. Philadelphia: W. B. Saunders Co., vol. 2, chapt. 19, pp. 680-733, 1976. Bove, K. E. and McAdams, A. J.: The nephroblastomatosis complex and its relationship to Wilms' tumor: a clinicopathologic treatise. In: Perspectives in Pediatric Pathology. Edited by H. S. Rosenberg and R. P. Bolaride. Chicago: Year Book Medical Publishers, Inc., vol. 3, pp. 185-223, 1976. Hou, L. T.: Bilateral nephroblastomatosis in a premature infant. J. Path. Bact., 82: 249, 1961. Sagel, S. S., Stanley, R. J., Levitt, R. G. and Geisse, G.: Computed tomography of the kidney. Radiology, 124: 359, 1977. Ferrera, D. N., Vitenson, J. H. and Siegel, J.: Computerized axial tomography scan in urology. Urology, 10: 212, 1977. Boldt, D. W. and Reilly, B. J.: Computed tomography of abdominal mass lesions in children. Initial experience. Radiology, 124: 371, 1977.
THE JOURNAL OF UROLOGY
Copyright© 1978 by The Williams & Wilkins Co.
Printed in U.S.A.
COMPUTED TOMOGRAPHY IN DIAGNOSIS OF INFANTILE POL YCYSTIC KIDNEY DISEASE RONALD RABINOWITZ,* ARTHUR J. SEGAL, H. K. MOHAN RAO
AND
AMBADAS PATHAK
From the Departments of Urology, Radiology and Pediatrics, Rochester General Hospital and the University of Rochester Medical Center, Rochester, New York
ABSTRACT
Computed tomography was used to confirm the diagnosis of infantile polycystic kidney disease in a critically ill premature newborn. This diagnostic modality provides a useful, non-invasive adjunct in infants with abdominal masses. The newborn with bilateral flank masses represents a diagnostic challenge. Physical examination, transillumination, excretory urogram (IVP),1 voiding cystourethrogram, ultrasonography,t-4 vanillyl mandelic acid determination and radionuclide scan5 contribute to the possible diagnoses of neuroblastoma, congenital mesoblastic nephroma, renal vein thrombosis, multicystic dysplastic kidney (Potter's type II A) and hydronephrosis secondary to urethral valves, megaureters with reflux, primary megaureters or ureteropelvic junction obstruction. However, these studies can be inconclusive in the differentiation of bilateral nephroblastomatosis, a disease amenable to chemotherapy and a disease that may progress to Wilms tumor from infantile polycystic kidney disease (Potter's type I). Herein we report on the use of computed tomography (CT) for diagnosis in a critically ill premature newborn. CASE REPORT
A male newborn, RGH 41-34-28, weighed 5 pounds, 12 ounces at birth after a 34-week gestation, complicated only by premature labor 24 hours before delivery. The mother had had 2 early spontaneous abortions. Although the I-minute Apgar score was 7 the newborn required oxygen and suctioning. He was transported to the Neonatal Intensive Care Unit at our hospital because of progressive respiratory distress. Blood pressure was 90/60, pulse was 140 and respirations (40 per minute) were controlled by a nasotracheal tube and a ventilator. Abdominal examination demonstrated huge bilateral reniform firm flank masses that did not transmit light. A voiding cystourethrogram was normal and there was no obstruction or reflux. An IVP showed huge kidneys, measuring 5 by 8 cm., with streaks of contrast material in the dilated tubules (fig. 1). Non-invasive confirmation of the diagnosis of congenital infantile polycystic kidney disease was obtained using a CT body scan (fig. 2). This study showed multiple water density masses causing the renal enlargement. The blood urea nitrogen increased to 46 mg./100 ml. and creatinine to 2.9 mg./100 ml. when the patient was 2 days old. Treatment became less aggressive because the diagnosis had been established by non-invasive techniques. The baby died when he was 68 hours old. Postmortem examination confirmed the diagnosis of the perinatal type of infantile polycystic kidney disease. All of the renal tubules were markedly and uniformly dilated. The hepatic bile ducts were irregularly dilated with minimal periportal fibrosis.
eral huge kidneys." Our patient had the most severe form of this disease, which is the perinatal type. 7 Bilateral huge renal masses are present at birth. Pathologically, more than 90 per cent of the renal tubules are involved but there is minimal hepatic periportal fibrosis. The baby is stillborn or death occurs a few days after birth. Had our patient remained in utero until term he probably would have been stillborn. The differential diagnosis of bilateral large kidneys includes neuroblastoma, renal vein thrombosis, multicystic dysplastic kidneys (Potter's type II A), congenital mesoblastic nephroma, nephroblastomatosis and hydronephrosis, in addition to infantile polycystic kidney disease (Potter's type I). 8 The initial physical, laboratory and radiologic studies include palpation, transillumination, vanillyl mandelic acid determination, IVP and voiding cystourethrogram. Ultrasound has been useful in differentiating marked hydronephrosis or multicystic dysplastic kidneys from infantile polycystic disease;; but the resolution is not adequate enough to differentiate it from bilateral Wilms tumors or its congeners, such as diffuse nephroblastomatosis. Not all newborns with infantile polycystic disease demonstrate the typical streaking appearance of contrast medium on the IVP. 8 When they later present with bilateral synchronous Wilms tumors it becomes apparent that the diagnosis in the
DISCUSSION
Congenital infantile polycystic kidney disease is a rare inherited autosomal recessive disorder characterized by bilatAccepted for publication March 3, 1978. * Requests for reprints: Division of Urology, Rochester General
Hospital, 1425 Portland Ave., Rochester, New York 14621.
FIG. 1. IVP when patient was 24 hours old 616
COMPUTED TOMOGRAPHY IN DIAGNOSIS OF INFANTILE POLYCYSTIC KIDNEY DISEASE
617
Fm. 2. CT scan shows massive bilateral renal enlargement secondary to markedly distended fluid filled tubules
newborn period was in reality diffuse nephroblastomatosis. 9 • 10 Although angiography is helpful biopsy is mandatory to make the diagnosis of nephroblastomatosis. However, when treating a critically ill premature newborn that potentially curable entity must definitely be ruled out in a non-invasive manner. Nephroblastomatosis consists of solid nodules of primitive metanephric epithelium. These nodules, which resemble small islands of Wilms tumor, are scattered throughout both kidneys in diffuse nephroblastomatosis. 9 Since these nodules are solid and similar in consistency to Wilms tumor CT can differentiate them from infantile polycystic disease. 11-13
6. 7. 8.
9.
REFERENCES
1. Dunbar, J. S. and Nogrady, B.: Excretory urography in the first year oflife. Radiol. Clin. N. Amer., 10: 367, 1972. 2. Goldberg, B. B., Capitanio, M. A. and Kirkpatrick, J. A.:
Ultrasonic evaluation of masses in pediatric patients. Amer. J. Roentgen., 116: 677, 1972. 3. Holder, T. M., Stuber, J. L. and Templeton, A. W.: Sonography as a diagnostic aid in the evaluation of abdominal masses in infants and children. J. Pediat. Surg., 7: 532, 1972. 4. Lee, T. G. and Blake, S.: Prenatal fetal and abdominal ultrasonography and diagnosis. Radiology, 124: 475, 1977. 5. Slutsky, L. J., Golimbu, M., Braunstein, P., Al-Askari, S.,
10. 11.
12. 13.
Genieser, N. and Golimbu, C.: Urographic imaging in neonatal period: radionuclide scan and x-ray. Urology, 10: 169, 1977. Osathanondh, V. and Potter, E. L.: Pathogenesis of polycystic kidneys. Survey of results ofmicrodissection. Arch. Path., 77: 510, 1964. Blyth, H. and Ockenden, B. G.: Polycystic disease of kidney and liver presenting in childhood. J. Med. Genet., 8: 257, 1971. Filmer, R. B. and Taxy, J. B.: Cysts of the kidney, renal dysplasia, and renal hypoplasia. In: Clinical Pediatric Urology. Edited by P. P. Kelalis and L. R. King. Philadelphia: W. B. Saunders Co., vol. 2, chapt. 19, pp. 680-733, 1976. Bove, K. E. and McAdams, A. J.: The nephroblastomatosis complex and its relationship to Wilms' tumor: a clinicopathologic treatise. In: Perspectives in Pediatric Pathology. Edited by H. S. Rosenberg and R. P. Bolaride. Chicago: Year Book Medical Publishers, Inc., vol. 3, pp. 185-223, 1976. Hou, L. T.: Bilateral nephroblastomatosis in a premature infant. J. Path. Bact., 82: 249, 1961. Sagel, S. S., Stanley, R. J., Levitt, R. G. and Geisse, G.: Computed tomography of the kidney. Radiology, 124: 359, 1977. Ferrera, D. N., Vitenson, J. H. and Siegel, J.: Computerized axial tomography scan in urology. Urology, 10: 212, 1977. Boldt, D. W. and Reilly, B. J.: Computed tomography of abdominal mass lesions in children. Initial experience. Radiology, 124: 371, 1977.
