RSS Feeds
The Nephropathy of Hereditary Osteo-onychodysplasia
- ROBERT G. MUTH, M.D., F.A.C.P.
- Requests for reprints should be addressed to Robert G. Muth, M.D., Assistant Professor of Medicine, Department of Medicine, University of Missouri School of Medicine in Kansas City, 24th and Cherry Streets, Kansas City, Mo. 64108.
Excerpt
Hereditary osteo-onychodysplasia is a genetically dominant syndrome characterized chiefly by dysplasia of the fingernails, the presence of iliac horns, hypoplastic or absent patellae, and deformities or luxation of the head of the radius. Hereditary anomalies of the bones and nails were probably mentioned as early as 1820 and were first reported in 1897 (1). The earlier reports mentioned deformities of the fingernails and patellae (2). In 1925 (3) abnormalities of the nails, patellae, and elbows were reported. Turner (4) in 1933 published the first rather comprehensive report of the syndrome. In his report, a pelvic roentgenogram clearly demonstrated large iliac
Summario in Interlingua
Osteo-onychodysplasia hereditari es un syndrome geneticamente dominante characterisate primarimente per dysplasia del ungulas digital, de presentia de cornos iliac, hypoplasia o absentia del patellas, e deformitates in le capite del radio. In le litteratura medical un associate lesion renal es a notar. Un revista del previemente describite casos reflecte un alte incidentia de proteinuria. Esseva contrate un reporto describente 6 membros de un familia con evidentia de affection renal, manifeste in proteinuria, anormal sedimentation urinari, e diminution del functiones renal. Duo patientes in ille familia moriva ab, probabilemente, morbo renal. Un altere reporto describe le constatationes necropsic in un homine con osteo-onychodysplasia hereditari qui moriva in insufficientia renal. Le tissu renal exhibiva characteristicas indicative de chronic glomerulonephritis.
Se trova in le litteratura medical nulle description ante morte de tissu renal in iste syndrome.
Quatro membros de un familia con osteo-onychodysplasia hereditari esseva studiate per le presente autor. Un del subjectos, un puera de 17 annos de etate, habeva proteinuria persistente, sed normal functiones renal. Un percutanee biopsia renal esseva executate. Le specimen revelava que 80 pro cento del glomerulos esseva anormal, monstrante non-specific proliferation de cellulas endothelial e epithelial e spissification focal del membrana basal. Plure glomerulos esseva partialmente hyalinisate. Le lesiones non esseva characteristic de chronic glomerulonephritis.
Non es possible specular relative al historia natural de iste lesion renal. Serial biopsias renal va esser necessari a parte le examine de tissu renal in un plus grande numero de patientes con iste syndrome.
Article and Author Information
-
From the Department of Medicine, University of Missouri School of Medicine in Kansas City General Hospital and Medical Center, Kansas City, Mo.
-
- Received November 24, 1964.
- Accepted December 22, 1964.
