Abstract
The first child of first-cousin parents had Potter sequence, including rudimentary, dysplastic kidneys and pulmonary hypoplasia. The girl died after 5 h. During the next pregnancy, early fetal ultrasound was normal. In the 33rd week, however, ultrasound revealed oligohydramniosis and reduced renal size. After 40 weeks of gestation a healthy girl of normal weight without any stigmata was born. Her pulmonary function and X-ray were normal. Renal ultrasound demonstrated small kidneys with high echogenicity. There was a transient renal insufficiency with a peak serum creatinine of 160 μmol/l. At 5 months of age the infant still has an increased serum creatinine concentration of 57 μmol/l and an inulin clearance of 29 ml/min per 1.73 m2. In this case there is a possibility of an autosomal recessive inheritance.
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Fischler, B.R., Berg, U.B. Potter sequence and consanguinity — a case report. Pediatr Nephrol 8, 81–82 (1994). https://doi.org/10.1007/BF00868274
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DOI: https://doi.org/10.1007/BF00868274