Thin basement membrane disease other diagnostic studies
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Marufa Marium, M.B.B.S[2]
Overview
DNA sequencing of COL4A3,COL4A4, COL4A5 is needed for differentiating TBMD and Alport syndrome in specialized laboratory.
Genetic analysis
Heterozygous mutation in COL4A3 and COL4A4 gene is responsible for causing autosomal dominant pattern of 40-50% of Thin basement membrane disease in which people have defective alpha 3, alpha 4 , alpha 5 chains. [1] And heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement membrane disease in female. DNA sequencing of COL4A3,COL4A4, COL4A5 is needed for differentiating TBMD and Alport syndrome in specialized laboratory. [2]
References
- ↑ 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.
- ↑ “Thin Basement Membrane Nephropathy | American Society of Nephrology”.
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