전자현미경 검사상 특징적인 기저막 변화를 나타낸 Nail-Patella 중후군 1예
- 한승엽; 황은아; 박성배; 김현철; 전시현; 강유나; 박관규
- Alternative Author(s)
- Han, Seung Yeup; Hwang, Eun Ah; Park, Sung Bae; Kim, Hyun Chul; Jeon, Si Hyun; Kang, Yu Na; Park, Kwan Kyu
- Issued Date
- 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 abnor malities 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.
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