Thin basement membrane disease: Difference between revisions
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==[[Thin basement membrane disease overview|Overview]]== | ==[[Thin basement membrane disease 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 congenita hereditary hematuria or hereditary hematuria or familial hematuric nephritis or benign hereditary nephritis. Being the most frequent cause of familial hematuria TBMN 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 TBMN is caused by germline mutation in COL4A3, COL4A4 genes, but female carrier with COL4A5 mutation may develop TBMN. <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 (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 congenita hereditary hematuria or hereditary hematuria or familial hematuric nephritis or benign hereditary nephritis. Being the most frequent cause of familial hematuria TBMN 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 TBMN is caused by germline mutation in COL4A3, COL4A4 genes, but female carrier with COL4A5 mutation may develop TBMN. <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 Historical Perspective|Historical perspective]]== | |||
==[[Thin basement membrane disease classification|Classification]]== | ==[[Thin basement membrane disease classification|Classification]]== | ||
There is no established system for the classification of Thin Basement Membrane Disease. | There is no established system for the classification of Thin Basement Membrane Disease. | ||
Revision as of 19:43, 3 October 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Thin basement membrane disease[1]; Thin membrane nephropathy[2]; thin GBM nephropathy; thin GBM syndrome; benign familial hematuria [3]; benigm familial essential hematuria; congenital hereditary hematuria; hereditary hematuria; familial hematuric nephritis; benign hereditary hematuric nephritis
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 congenita hereditary hematuria or hereditary hematuria or familial hematuric nephritis or benign hereditary nephritis. Being the most frequent cause of familial hematuria TBMN is affecting 1% of population.[4] 40% of TBMN is caused by germline mutation in COL4A3, COL4A4 genes, but female carrier with COL4A5 mutation may develop TBMN. [5]
Historical perspective
Classification
There is no established system for the classification of Thin Basement Membrane Disease.
Pathophysiology
Causes
Differentiating Thin basement membrane disease from other Diseases
Epidemiology and Demographics
Risk Factors
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Biopsy | Other Diagnostic Studies
Treatment
Medical Therapy | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
Template:WH Template:WikiDoc Sources
- ↑ Takemura T, Yanagida H, Yagi K, Moriwaki K, Okada M (September 2003). "Alport syndrome and benign familial hematuria (thin basement membrane disease) in two brothers of a family with hematuria". Clin. Nephrol. 60 (3): 195–200. doi:10.5414/cnp60195. PMID 14524583.
- ↑ Nieuwhof CM, de Heer F, de Leeuw P, van Breda Vriesman PJ (May 1997). "Thin GBM nephropathy: premature glomerular obsolescence is associated with hypertension and late onset renal failure". Kidney Int. 51 (5): 1596–601. doi:10.1038/ki.1997.219. PMID 9150478.
- ↑ Marks MI, Drummond KN (October 1969). "Benign familial hematuria". Pediatrics. 44 (4): 590–3. PMID 4899625.
- ↑ 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.