July 1977 The Journal of P E D I A T R I C S 61 Familial nephrosis, h ypoparat h yro idism nerve deafness, and Two male siblings with nephrotic syndrome, nerve deafness, and hypoparathyroidism are described. Each child, one at five years of age and the other at eight years, died in renal failure. At autopsy the parathyroid glands were absent in one child and hypoplastie in the other one. Two twin male siblings presented with similar findings and died at the age of three years. A t autopsy their parathyroid glands were fibrotic, and glomerular basement membranes were thickened. This may be the first recorded association of familial nephrosis, nerve deafness, and hypoparathyroidism. The mode of transmission is compatible with autosomal recessive inheritance. Amin Y. Barakat, M.D.,* James B. D'Albora, M.D., Malcolm M. Martin, M.D., and Pedro A. Jose, M.D., Washington, D. C. FAMILIAL NEPHROSIS is a well-known entity. It occurs at an earlier age, it is more resistant to treatment, and it carries a worse prognosis than sporadic nephrosis. '-:~ Two male siblings with familial nephrosis associated with nerve deafness and hypoparathyroidism are described. Two twin male siblings had similar findings. This associa- tion, to our knowledge, has not been described. CASE REPORTS Case 1. A 31/2-year-old white male was admitted to hospital for investigation of asymptomatic proteinuria. Prenatal and neonatal histories were uneventful. At the age of three years, nerve deafness with 90% hearing loss was found. On admission, height was 104 cm; weight, 16.5 kg; and blood pressure, 100/80 mm Hg. The physical examination was normal. Hematocrit value was 35% and hemoglobin concentration, II gm/dl. Urine specific gravity was 1.020; pH, 5; protein, 300 mg/dl; and no red blood cells. Serum chemical values (admission l) are presented in Table I. Repeated urine cultures were sterile. Inulin clearance was 152 ml/minute/1.73 m'-'; PAH clearance, 588 ml/minute/l.73 m ~. Results of an intravenous pyelogram, voiding cystogram, cystos- copy, and retrograde pyelography were normal. A renal biopsy was performed. He remained clinically well until the age of five years when he From the Department of Pediatrics, Georgetown University Medical Center. *Reprint address: Department of Pediatrics, Georgetown University Medical Center, 3800 Reservoir Road, N. V~, Washington, D. C. 2000Z was readmitted with generalized edema. Blood pressure was 130/ 80 mm Hg. Urine specific gravity was 1.032; protein, 300 mg/dl; there were numerous red and white blood cells per high-power field. Serum urea nitrogen was 21 mg/dl and creatinine, 0.6 mg/ dl. Prednisone and thiazide therapy was associated with clinical but not biochemical remission. Abbreviations used C~: inulin clearance PTH: parathormone CE,A~j: PAH clearance One week later he was readmitted with muscular weakness and carpopedal spasm. There was no history of diarrhea. Laboratory data included a hematocrit value of 26%; hemoglobin concentra- tion, 9.0 gm/dl; proteinuria, 18 gm/24 hour; the rest of the pertinent values are presented in Table I (admission 3). Roent- genograms of the skull, long bones and hands were normal. C~ and C~.A, decreased to 57 and 241 ml/minute/1.73 mL respec- tively. Prednisone and diuretic therapy were discontinued. At this time hypoparathyroidism was suspected, and laboratory investi- gation was undertaken; PTH levels were not available at that time. Serum calcium levels were maintained at 9.0 to 10.8 mg/dl with vitamin D and supplemental calcium. Upon discharge from the hospital urinary protein was 400 mg/24 hour; serum phos- phorus concentr.ation, 4.0 mg/dl. Renal function remained stable until the age of seven years. Over the subsequent year, progressive deterioration in renal function was noted. Serum calcium and phosphorus levels were maintained by vitamin D and a chelating agent. Vol. 91, No. 1, pp. 61-64