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[Nail-patella syndrome: clinico-pathologic characteristics]
C Trinn1, B Szöke, T Magyarlaki
1Pécsi Orvostudományi Egyetem II. Belgyógyászati Klinika, Nephrologiai Centrum.
Orvosi Hetilap
|October 13, 1996
Summary
Nail-patella syndrome, an inherited disorder, involves skeletal issues and kidney disease, often presenting as hematuria or nephrotic syndrome. Kidney biopsies reveal collagen deposits in the glomerular basement membrane, explaining the renal pathology.
Area of Science:
- Nephrology
- Genetics
- Pathology
Background:
- Nail-patella syndrome is an autosomal dominant hereditary disorder.
- It presents with skeletal abnormalities and varying degrees of kidney involvement, including proteinuria, hematuria, and nephrotic syndrome.
- Renal failure can develop in a significant portion of affected individuals.