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Nephronophthisis. Renal function and histologic studies in a family
Nephron
|January 1, 1977
Summary
Nephronophthisis, a kidney disease, presents with sodium loss and excessive urination. Studies suggest an autosomal recessive inheritance pattern and potential early collecting duct involvement.
Area of Science:
- Nephrology
- Genetics
- Pediatric Nephrology
Background:
- Nephronophthisis is a hereditary kidney disease characterized by progressive renal failure.
- Key features include impaired urinary concentration, polyuria, and polydipsia, often without hypertension.
- Previous classifications include familial juvenile nephronophthisis and medullary cystic disease.