[Nephronophthisis: study of 10 cases. Incidence, natural history and associated pathology (author's transl)]

Nephronophthisis is a chronic interstitial nephropathy which in childhood may lead to terminal renal failure. Between January 1975 and July 1980, 41 children with terminal renal failure were seen in our service, of which 10 (21.9%) presented with nephronophthisis. Age of the patients ranged from 3.5-18 years, boys were in the majority (8/2). Three cases were isolated and 7 were familial (3 families). Onset was during the first year of life in 8 patients, and polydipsia-polyuria were the first symptoms. Retarded growth and anemia proportionate to the degree of renal failure were present in all patients. When diagnosed, 5 patients (50%) presented terminal renal failure, and the other 5 had renal failure of different degrees. Moderate proteinuria was found in 4 patients, without changes in urine sediment. Sodium depletion in urine was high in 5 cases and maximal urine osmolarity was less than 500 muOsm/l after hydropenia in all cases. Four had associated mental deficiency with cerebellar ataxia associated in two and congenital hepatic fibrosis (confirmed histologically) in one. The diagnosis was confirmed by biopsy in 8 and in two of these on frozen section during nephrectomy prior to kidney transplantation. At present, five of the patients are in maintenance hemodialysis, two died at home due to cardiovascular complications in terminal renal insufficiency and the remaining ones presented different degrees of renal insufficiency. Time elapsed between onset of the symptoms and inclusion in hemodialysis or death ranges form 6 months to 13 years (mean 6.7 years).