Pauline Bazinet, M.D.; Paul Krasner, M.D.; Serge Duckett, M.D.; Norman Lasker, M.D., F.A.C.P.
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Renal involvement in osteo-onychodysplasia (nail-patella syndrome) has been well delineated. A family consisting of the father and his three daughters was investigated. The father presented with renal insufficiency (creatinine clearance, 10 ml/min) and proteinuria; the daughters were found to have 0 to 1 + proteinuria with normal creatinine clearance. Inulin and para-amino hippuric acid clearances were normal in the three daughters, whereas all showed a concentration defect with normal urinary acidification.
No abnormality could be found in amino acid excretion, but 24-hr urine levels of hydroxyproline were elevated. Findings on light microscopy in the early stages included local proliferative changes
Bazinet P, Krasner P, Duckett S, Lasker N. Renal Abnormality in the Nail-Patella Syndrome.. Ann Intern Med. 1970;72:804. doi: 10.7326/0003-4819-72-5-804_4
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Published: Ann Intern Med. 1970;72(5):804.
DOI: 10.7326/0003-4819-72-5-804_4