Thin basement membrane disease overview: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
[[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> | [[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> | ||
==Historical Perspective== | |||
==Classification== | |||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating Xyz from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Study of Choice=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Electrocardiogram=== | |||
===X-ray=== | |||
===Echocardiography and Ultrasound=== | |||
===CT scan=== | |||
===MRI=== | |||
===Other Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
=== Interventions === | |||
===Surgery=== | |||
===Primary Prevention=== | |||
===Secondary Prevention=== | |||
==References== | ==References== | ||
Revision as of 16:02, 22 October 2020
|
Thin basement membrane disease Microchapters |
|
Differentiating Thin basement membrane disease from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Thin basement membrane disease overview On the Web |
|
American Roentgen Ray Society Images of Thin basement membrane disease overview |
|
Directions to Hospitals Treating Thin basement membrane disease |
|
Risk calculators and risk factors for Thin basement membrane disease overview |
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]
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Xyz from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Interventions
Surgery
Primary Prevention
Secondary Prevention
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.