Korean Journal of Nephrology 1993;12(3):459-463.
Nail - patella 증후군 2예
구본상 , 김상정 , 김병길 , 최인준 , 오기근 , 박희완
Abstract
Nail patella syndrome is a disorder characterized by dysplasia of the nails and multiple osseous abnormal- ities primarily affecting the elbows and knees. The nail changes are most severe in the thumb and clinical manifestations of knee involvement are present in nearly every case. The iliac horns seen on the pelvis AP film is a pathognomonic finding. Some patients have a variety of ophthalmologic manifestations and vascular anomalies. Forty percents of patients with this syndrome demonstrate proteinuria or hematuria. Fully developed nephrotic syndrome and end stage renal disease occur but are less common. Overall, approximately ten percents of affected patients progress to end stage renal disease. In most if not all patients with this syndrome, typical electron microscopic abnormalities, or collagen like fibrils deposited on the glomerular base- ment membranes, are present wheter urinalysis shows no abonrmality. We experienced 2 cases of patients who had typical clinical manifestations of the nail patella syndrome, and one case was the first in Korea to be diagnosed by renal biopsy.
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