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KMID : 0359919930120030459
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Korean Journal of Nephrology
1993 Volume.12 No. 3 p.459 ~ p.463
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Two Cases of Nail Patella Syndrome
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구본상
김상정/김병길/최인준/오기근/박희완
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Abstract
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Nail patella syndrome is a disorder characterized by dysplasia of the nails and multiple osscous abnormalities 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 pelyis AP film is a pathognomonic finding. Some patients have a variety of ophtyhalmologic 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
syndirome, typica electron microscopic abnormalities, or coilagen like fibrils deposited on the glomerular base ment membranes, are present where urinalysis shows no abnrmality. 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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