Hereditary renal adysplasia in a three generations family

Renal agenesia is one of the more common urinary malformations. Renal agenesia can be unilateral, more frequently, or bilateral. This malformation can be isolated or present with other urinary and/or extra urinary anomalies. We report a family with renal agenesia. The proband was a fetus. Ultrasonographic examination at 15 weeks of gestation showed a left renal agenesia and a right multicystic kidney, absence of bladder and oligohydramnios. The same features were found at 19 weeks of gestation. The couple asked for termination of pregnancy. On pathologic examination the absence of left kidney was confirmed whereas the right kidney which measured 3.5 cm was filled with numerous cysts of 0.2 cm to 1 cm. of diameter and fibrosis. According to the Potter's classification these images are characteristic of a dysplasia type II. There was no hepatic fibrosis. Family history revealed that the mother is in good health, she had previously a normal son. The father had a unilateral renal agenesia which was diagnosed after he had arterial hypertension when he was 25-years-old. The paternal grand father and his brother had unilateral renal agenesia which was shown by screening. This family shows that renal agenesia can be autosomal dominantly inherited and that the expressivity of this anomaly is variable.