A 10-year-old with proteinuria and collagen fibers in glomerular basement membrane: answer
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Shaila R. Khubchandani & Raju P. Khubchandani
- چاپ و سال / کشور: 2011
Description
The seat of ultra filtration of all the fluid in the human body is the glomerulus. The normal glomerular basement membrane is composed of a triple helical molecule of type IV collagen showing sieve-like arrangements [1]. In nail– patella syndrome, abnormal banded collagen (type III) is detected in the lamina densa of the basement membranes. Hereditary osteo-onycho-dysplasia or NPS is an autosomal dominant entity (OMIM 161200) characterized by absence of the patella, nail dystrophy, and renal abnormalities [2]. The renal abnormality is seen in 35–45% of cases. It may be a late manifestation, and is responsible for the morbidity and mortality of this condition. The diagnostic morphologic features are noted only using electron microscopy [3, 4].
Pediatr Nephrol DOI 10.1007/s00467-011-1776-2 Received: 22 November 2010 / Revised: 15 December 2010 / Accepted: 5 January 2011
