Thin basement membrane disease causes
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Marufa Marium, M.B.B.S[2]
Overview
Thin basement membrane disease is an inherited disorder caused by mutation in COL4A3, COL4A4 and rarely COL4A5 gene mutation. Some form of TBMD are due to ‘De novo‘ mutation.
Causes
Most common cause of TBMD may include:
- Autosomal dominant inheritance due to heterozygous mutation in COL4A3 and COL4A4 gene.
Less common causes of TBMD include:
- Heterozygous mutation in COL4A5 gene in X-chromosome causing Thin basement membrane like disease in female
- ‘De novo‘ mutation.[1]
References
- ↑ Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J (May 2005). “The genetics of thin basement membrane nephropathy”. Semin. Nephrol. 25 (3): 163–70. doi:10.1016/j.semnephrol.2005.01.008. PMID 15880327.
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