Thin basement membrane disease overview: Difference between revisions
| Line 8: | Line 8: | ||
==Historical Perspective== | ==Historical Perspective== | ||
[[Thin basement membrane disease]] is the most common cause of [[Persistent recurrent hematuria]]. A form of [[Benign]] [[hemorrhagic nephritis]] is first noted in 1926 by Goerge Baehr. Then[[Persistent recurrent hematuria]] is first observed in seven out of eight siblings in a family by Melvin I. Marks and Keith N. Drummond in 1969. P. W. Rogers was the first one to analyse the association between [[recurrent]] asymptomatic [[hematuria]] and [[thin glomerular basement membrane]] in 1973. The association between the [[COL4A3]], [[COL4A4]] and [[COL4A5]] [[gene]] [[mutation]] in [[long q arm]] of [[chromosome]] 2 and the [[recurrence]] of [[X-linked]] and [[autosomal]] [[alport syndrome]] in several studies conducted in 1990-1994. In 1996, it was demonstrated the cause of [[Benign]] [[familial]] [[hematuria]] is [[Mutation]] in [[COL4A3]] and [[COL4A4]]. | [[Thin basement membrane disease]] is the most common cause of [[Persistent recurrent hematuria]]. A form of [[Benign]] [[hemorrhagic nephritis]] is first noted in 1926 by Goerge Baehr. Then[[Persistent recurrent hematuria]] is first observed in seven out of eight siblings in a family by Melvin I. Marks and Keith N. Drummond in 1969. P. W. Rogers was the first one to analyse the association between [[recurrent]] asymptomatic [[hematuria]] and [[thin glomerular basement membrane]] in 1973. The association between the [[COL4A3]], [[COL4A4]] and [[COL4A5]] [[gene]] [[mutation]] in [[long q arm]] of [[chromosome]] 2 and the [[recurrence]] of [[X-linked]] and [[autosomal]] [[alport syndrome]] in several studies conducted in 1990-1994. In 1996, it was demonstrated that the cause of [[Benign]] [[familial]] [[hematuria]] is [[Mutation]] in [[COL4A3]] and [[COL4A4]]. | ||
==Classification== | ==Classification== | ||
Revision as of 18:27, 24 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
Thin basement membrane disease is the most common cause of Persistent recurrent hematuria. A form of Benign hemorrhagic nephritis is first noted in 1926 by Goerge Baehr. ThenPersistent recurrent hematuria is first observed in seven out of eight siblings in a family by Melvin I. Marks and Keith N. Drummond in 1969. P. W. Rogers was the first one to analyse the association between recurrent asymptomatic hematuria and thin glomerular basement membrane in 1973. The association between the COL4A3, COL4A4 and COL4A5 gene mutation in long q arm of chromosome 2 and the recurrence of X-linked and autosomal alport syndrome in several studies conducted in 1990-1994. In 1996, it was demonstrated that the cause of Benign familial hematuria is Mutation in COL4A3 and COL4A4.
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.