Thin basement membrane disease causes: Difference between revisions
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{{Thin basement membrane disease}} | {{Thin basement membrane disease}} | ||
{{CMG}} | |||
{{AE}} {{MMT}} | |||
==Overview== | ==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. | [[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 '<nowiki/>'''[[De novo]]'''' [[mutation]]. | ||
==Causes== | ==Causes== | ||
Most common cause of TBMD may include: | Most common [[Causes|cause]] of [[TBMD]] may include: | ||
Less common causes of TBMD include: | *[[Autosomal dominant inheritance]] due to [[heterozygous]] [[mutation]] in [[COL4A3]] and [[COL4A4]] gene. | ||
*Heterozygous mutation in COL4A5 gene in X-chromosome causing Thin basement membrane like disease in female | |||
*''''De novo'''' mutation.<ref name="pmid15880327">{{cite journal |vauthors=Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J |title=The genetics of thin basement membrane nephropathy |journal=Semin. Nephrol. |volume=25 |issue=3 |pages=163–70 |date=May 2005 |pmid=15880327 |doi=10.1016/j.semnephrol.2005.01.008 |url=}}</ref> | Less common [[causes]] of [[TBMD]] include: | ||
*[[Heterozygous]] mutation in [[COL4A5]] gene in [[X-chromosome]] causing [[Thin basement membrane disease|Thin basement membrane]] like disease in [[female]] | |||
*'<nowiki/>'''[[De novo]]'''' [[mutation]].<ref name="pmid15880327">{{cite journal |vauthors=Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J |title=The genetics of thin basement membrane nephropathy |journal=Semin. Nephrol. |volume=25 |issue=3 |pages=163–70 |date=May 2005 |pmid=15880327 |doi=10.1016/j.semnephrol.2005.01.008 |url=}}</ref> | |||
Latest revision as of 09:34, 21 December 2020
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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.