Acta Paediatr 81: 562-3. 1992

SHORT COMMUNICATION

Polycystic kidneys in Ivemark’s syndrome F Krull, I Schulze-Neick and I Luhmer Departments of Pediatric Nephrology and Pediatric Cardiology. Children’s Hospital. Medizinische Hochschule Hannouer. 0-3000 Hannover 61, Germany

Ivemark’s syndrome is a congenital malformation characterized by cardiovascular and bronchopulmonary malformations and visceral heterotaxia. Improvements in surgical techniques have led to successful repair of the cardiac defects but extracardiac anomalies may complicate the clinical course. We report on a nine-year-old girl with Ivemark’s syndrome and polycystic kidneys. The girl was the first child of healthy, non-related parents. She was born after an uncomplicated pregnancy with a birth weight of 1900 g. Systolic heart murmur and severe cyanosis with hemoglobin levels of 24 g/dl led to cardiac catheterization at the age of three months, which showed a single atrium and a single ventricle with pulmonary stenosis and the aorta descending on the right side. There was a left posterior cardinal vein and a left-sided inferior vena cava. Sonographic examination revealed absence of the spleen, situs inversus abdominalis, a cystic structure below the liver and enlarged cystic kidneys. Iv pyelography showed enlarged kidneys with the collecting system splayed and distorted by cysts. As arterial oxygen saturation was 26% an aorto pulmonary Blalock-Taussig shunt was established on the right side, which increased aortic saturation to 68%. However, hemoglobin levels remained unchanged so that low-dose aspirin therapy was started and a second Blalock-Taussig shunt was established on the left side, which did not lead to a decrease in hemoglobin concentration. At the age of 18 months there was a short episode of macrohematuria and proteinuria. Since that time proteinuria and microhematuria persisted and the girl developed a nephrotic syndrome. A scintigraphic examination of the kidneys at that time revealed a partial function of 10% of the right kidney. Retrospectively, renal vein thrombosis was diagnosed. The nephrotic syndrome resolved within three months without specific therapy. Blood pressure and serum creatinine remained at a normal value throughout the course. The girl is now nine-years-old. She has central cyanosis with an aortic oxygen saturation of 80%and an inadequate high hemoglobin level of 24 g/dl. Serum creatinine is normal (38 umol/l) but there is constant proteinuria of 1 g/day and microhematuria. Serum erythropoietin levels are normal. Abdominal ultrasound continues to show enlarged cystic kidneys (Fig. 1). Sonographic evaluation of the parents and the sister revealed normal kidneys.

Fig. 1. Sonographic view of the right kidney. The upper part of the picture shows an enlarged kidney with increased echogenicity compared to the liver. The lower part of the picture shows the same kidney from a dorsal view with some small cysts.

The asplenia syndrome is a congenital malformation with complex cyanotic cardiac abnormalities, abnormal bronchopulmonary symmetry, situs inversus abdominalis and asplenia (1). Until now there have been only few reports about an involvement of the kidneys. Freedom (2) reported eight patients with genitourinary abnormalities including horseshoe kidney, hydronephrosis, urethral valves, renal hypoplasia and nephroptosis. Crawfurd (3) reported two siblings with polycystic kidneys and Ivemark’s syndrome.

Polycysric kidneys in IvemarkS syndrome

ACTA PiEDIATR 81 (1992)

The case described in this report showed a cardiac and abdominal malformation typical of Ivemark’s syndrome. Sonographically and radiologically polycystic kidney disease was found. It is likely that the adult type of polycystic kidney disease was present because hypertension and renal insufficiency have not yet developed. The cystic stucture below the liver also supports this diagnosis (4). Increased production of erythropoietin by cystic kidneys has been reported (5) and may explain why aortopulmonary shunts failed to lower the hematocrit values in this girl. We conclude that patients with Ivemark’s syndrome should be carefully examined for a malformation of the kidneys.

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References 1. Iveinark B. Implications ofagenesis of the spleen on the pathogene-

2. 3. 4. 5.

sis of conotruncus anomalies in childhood. Acta Paediatr Scand 1955;44(suppl 104):l-I10 Freedom RM. The asplenia syndrome: A review of sigriificant structural abnormalities in 29 necropsied patients. J Pediatr 1972;81:1130-3 Crawfurd Md’A. Renal dysplasia and asplenia in two sibs. Clin Genetics 1978;14:33844 Zerres K, Volpel MC, WeiD H. Cystic kidney: Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum Genet 1984;68:104-35 Kaarianen H, Koskimies 0, Norio R. Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr Nephrol 1988;2:296-302.

Received June 6, 1991. Accepted Oct. 16, 1991

Polycystic kidneys in Ivemark's syndrome.

Acta Paediatr 81: 562-3. 1992 SHORT COMMUNICATION Polycystic kidneys in Ivemark’s syndrome F Krull, I Schulze-Neick and I Luhmer Departments of Pedi...
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