Thin basement membrane disease overview
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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]
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
There is no distinctive classification on Thin basement membrane disease.
Pathophysiology
Thin basement membrane disease is usually caused by Heterozygous mutation in COL4A3 and COL4A4 gene in autosomal nonprogressive dominant pattern and heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement membrane disease in female.. Alport syndrome, IgA nephropathy are among the most common to have association with Thin basement membrane disease. Gross pathology usually shows no distinctive features although Diffuse thinning of GBM in electron microscopy, Erythrocytes in between renal tubules ad bowman's membrane, Minimal glomerular change or mesangial expansion on light microscopy are seen on microscopic histopathological analysis.
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Differentiating Xyz from Other Diseases
Epidemiology and Demographics
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Treatment
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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.