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July 1967

The Nail-Patella Syndrome: Clinical Findings and Ultrastructural Observations in the Kidney

Author Affiliations

Columbus, Ohio

From the departments of medicine and pathology, the Ohio State University Hospitals, Columbus.

Arch Intern Med. 1967;120(1):68-74. doi:10.1001/archinte.1967.00300010070012

THE NAIL-PATELLA syndrome (hereditary osteo-onychodystrophy) is a rare, genetically determined disorder involving tissues of both ectodermal and mesodermal origin. Though the commonly affected sites of dysplasia are the patellae, the nails, and the elbows, other defects are often present. Since 1946, several investigators have commented upon the associated finding of proteinuria and hematuria in this syndrome suggesting glomerular involvement.1-8 The renal pathology in this disorder has not been fully delineated, nor have ultrastructural changes from the kidney been reported. It is the purpose of this report to describe additional clinical findings in an affected patient and further to define morphologic changes observed in the kidney by use of both light and electron microscopy.

Report of a Case  In April of 1964, a 39-year-old white housewife entered University Hospital for evaluation of abdominal distention. During her hospitalization, she spontaneously passed a urinary tract stone. Since this initial episode, she has