A Case of Nail-Patella Syndrome Who Presented with Characteristic Electron Microscopic Findings / 대한신장학회잡지

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.