Thin basement membrane disease overview: Difference between revisions
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==Overview== | ==Overview== | ||
[[Thin basement membrane disease]] ([[TBMD]]) is one of the [[inherited]] disorder of [[kidney]] affecting [[glomeruli]]. It is also known as [[Thin basement membrane nephropathy]] ([[TBMN]]) or [[thin membrane nephropathy]] or thin [[GBM]] syndrome or [[benign]] familial [[hematuria]] or [[benign]] [[familial]] essential [[hematuria]] or [[congenital]] [[hereditary]] [[hematuria]] or hereditary hematuria or familial hematuric [[nephritis]] or benign hereditary nephritis. Being the most frequent cause of familial hematuria [[TBMD]] is affecting 1% of [[population]].<ref name="pmid12969134">{{cite journal |vauthors=Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY |title=Thin basement membrane nephropathy |journal=Kidney Int. |volume=64 |issue=4 |pages=1169–78 |date=October 2003 |pmid=12969134 |doi=10.1046/j.1523-1755.2003.00234.x |url=}}</ref> 40% of [[TBMD]] is caused by [[germline]] [[mutation]] in [[COL4A3]], [[COL4A4]] [[genes]], but female [[carrier]] with [[COL4A5]] [[mutation]] may develop [[TBMD]]. <ref name="pmid11318937">{{cite journal |vauthors=Buzza M, Wilson D, Savige J |title=Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome |journal=Kidney Int. |volume=59 |issue=5 |pages=1670–6 |date=May 2001 |pmid=11318937 |doi=10.1046/j.1523-1755.2001.0590051670.x |url=}}</ref> | [[Thin basement membrane disease]] ([[Thin basement membrane disease|TBMD]]) is one of the [[inherited]] disorder of [[kidney]] affecting [[glomeruli]]. It is also known as [[Thin basement membrane nephropathy]] ([[TBMN]]) or [[thin membrane nephropathy]] or thin [[GBM]] syndrome or [[benign]] familial [[hematuria]] or [[benign]] [[familial]] essential [[hematuria]] or [[congenital]] [[hereditary]] [[hematuria]] or hereditary hematuria or familial hematuric [[nephritis]] or benign hereditary nephritis. Being the most frequent cause of familial hematuria [[TBMD]] is affecting 1% of [[population]].<ref name="pmid12969134">{{cite journal |vauthors=Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY |title=Thin basement membrane nephropathy |journal=Kidney Int. |volume=64 |issue=4 |pages=1169–78 |date=October 2003 |pmid=12969134 |doi=10.1046/j.1523-1755.2003.00234.x |url=}}</ref> 40% of [[Thin basement membrane disease|TBMD]] is caused by [[germline]] [[mutation]] in [[COL4A3]], [[COL4A4]] [[genes]], but female [[carrier]] with [[COL4A5]] [[mutation]] may develop [[Thin basement membrane disease|TBMD]]. <ref name="pmid11318937">{{cite journal |vauthors=Buzza M, Wilson D, Savige J |title=Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome |journal=Kidney Int. |volume=59 |issue=5 |pages=1670–6 |date=May 2001 |pmid=11318937 |doi=10.1046/j.1523-1755.2001.0590051670.x |url=}}</ref> | ||
==References== | ==References== | ||
Revision as of 18:39, 20 October 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Thin basement membrane disease (TBMD) is one of the inherited disorder of kidney affecting glomeruli. It is also known as Thin basement membrane nephropathy (TBMN) or thin membrane nephropathy or thin GBM syndrome or benign familial hematuria or benign familial essential hematuria or congenital hereditary hematuria or hereditary hematuria or familial hematuric nephritis or benign hereditary nephritis. Being the most frequent cause of familial hematuria TBMD is affecting 1% of population.[1] 40% of TBMD is caused by germline mutation in COL4A3, COL4A4 genes, but female carrier with COL4A5 mutation may develop TBMD. [2]
References
- ↑ Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY (October 2003). "Thin basement membrane nephropathy". Kidney Int. 64 (4): 1169–78. doi:10.1046/j.1523-1755.2003.00234.x. PMID 12969134.
- ↑ Buzza M, Wilson D, Savige J (May 2001). "Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome". Kidney Int. 59 (5): 1670–6. doi:10.1046/j.1523-1755.2001.0590051670.x. PMID 11318937.