Thin basement membrane disease pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Physiology Glomerular Basement membrane is consists of laminin, Type 4 collagen, heparan sulfate proteoglycan and nidogen. Type 4 collagen is generally composed of Gly-X-Y amino acids rich in six alpha chains (alpha 1-6) that gives type 4 collagen a trimeric shape. The nascent GBM is made up of alpha 1 and 2 initially, then alpha 3-4 trimers are secreted after glomerular capillaries formation which becomes the major component of type 4 collagen and giving the GBM its stability.[1]
Pathology Heterozygous mutation in COL4A3 and COL4A4 is responsible for causing autosomal dominant pattern of 40-50% of Thin basement membrane disease. [1] And heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement mamebrane disease in female.
Genetics Associated condition Gross pathology Microscopic pathology
References
- ↑ 1.0 1.1 Miner JH (May 2012). "The glomerular basement membrane". Exp. Cell Res. 318 (9): 973–8. doi:10.1016/j.yexcr.2012.02.031. PMC 3334451. PMID 22410250.