A Case of Nail-Patella Syndrome Who Presented with Characteristic Electron Microscopic Findings.
- Author:
Seung Yeup HAN
1
;
Min Kyoung KANG
;
Eun Ah WHANG
;
Sung Bae PARK
;
Hyun Chul KIM
;
Si Hyun JEON
;
Yu Na KANG
;
Kwan Kyu PARK
Author Information
1. Dongsan Kidney Institute, Korea.
- Publication Type:Case Report
- Keywords:
Nail-patella syndrome;
Proteinuria;
Moth-eaten appearance
- MeSH:
Adult;
Animals;
Dislocations;
Glomerular Basement Membrane;
Head;
Hematuria;
Horns;
Humans;
Kidney Failure, Chronic;
Microscopy, Electron;
Nail-Patella Syndrome*;
Patella;
Proteinuria
- From:Korean Journal of Nephrology
2002;21(5):837-841
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Nail-patella syndrome is a relatively rare autosomal dominant disorder characterized by dysplastic nail, hypoplastic or absent patella, and dislocation of radial head and iliac horns. In addition, renal abnormalities have been reported. The usual clinical signs of the renal involvement are asymptomatic proteinuria, microscopic hematuria, and in some cases progression to end stage renal disease. We present the case of adult with nail-patella syndrome, who developed proteinuria. Electron microscopy revealed irregular thickening of the glomerular basement membrane with areas of rarefaction, giving rise to a pathognomonic "moth-eaten" appearance.
