Oligomeganephronia with Multiple Anomalies

A male Japanese baby weighing 2830g was born to a mother with Addison s disease, who had been treated with hydrocortisone during her pregnancy. He was admitted immediately after birth because of tachypnea and multiple anomalies, i. e., cleft lip, cleft palate, low set and malformed ear, and retentio testis. During his initial five months of life in the hospital, he suffered from urinary tract infection and septicemia. Also epilepsy, mental retardation and renal and tubular dysfunction were noted during this period. At 13 months of age, he was readmitted with pneumonia. Unexplained fever and polyuria persisted, and dehydration with diarrhea occurred frequently. Finally he died of interstitial pneumonia, intractable dehydration and status epileptics at 18 months of age. Autopsy findings disclosed bilateral hypoplastic kidney, interstitial pneumonia and mal-rotation of the intestine. The right kidney was discoid-shaped, ectopic and malrotated. Light microscopic findings clarified a decreased number of glomeruli, dilatation of tubules and hypertrophy of glomeruli three times as large as the normal control. All these findings were compatible with oligomeganephronia. Association of multiple anomalies with oligomeganephronia is said to be very rare. However, among the 44 reported cases which we could examine, the association was found not to be uncommon. In addition, this condition was discussed from the standpoint of its etiopathogenesis.