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Autosomal dominant inheritance of small kidneys
B S Kaplan1, L S Milner, S Jequier
1Renal Service, Montreal Children's Hospital, McGill University, Quebec, Canada.
American Journal of Medical Genetics
|January 1, 1989
Summary
A mother and her two sons presented with bilateral small kidneys and chronic renal failure. This familial kidney condition, potentially linked to glomerular cysts, was not explained by known genetic syndromes.
Area of Science:
- Nephrology
- Medical Genetics
- Pediatric Nephrology
Background:
- Bilateral small kidneys can be associated with chronic renal failure and may occur in various genetic syndromes.
- Recognized syndromes like branchio-oto-renal syndrome and juvenile nephronophthisis have distinct clinical features.
- Familial hypoplastic kidneys with glomerular cysts present some overlapping manifestations.