Thin basement membrane disease
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Thin membrane nephropathy; thin GBM nephropathy; thin GBM syndrome; benign familial hematuria; benigm familial essential hematuria; congenital hereditary hematuria; hereditary hematuria; familial hematuric nephritis; benign hereditary hematuric nephritis
Overview
Thin basement membrane disease (TBMD)[1] is one of the inherited disorder of kidney affecting glomeruli. It is also known as Thin basement membrane nephropathy (TBMN) or thin membrane nephropathy[2] or thin GBM syndrome or benign familial [3] 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
In 1969, Melvin I. Marks and Keith N. Drummond published an article showing that seven out of eight siblings were having persistent hematuria for 6 months to 8 years duration without experiencing any symptoms. They did not find any abnormalities in renal biopsy, light microscopy, immunoflurocence. [3] Then electron microscopy was done to analyse the association between recurrent asymptomatic hematuria and thin glomerular basement membrane is discovered in 1973. [6] From 1990-1994 several studies were conducted to find out the association between the COL4A3, COL4A4 and COL4A5 gene mutation in long q arm of chromosome 22 and the recurrence of X-linked and autosomal alport syndrome.[7] [8] Later in 1996
Classification
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.
- ↑ 3.0 3.1 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.
- ↑ Rogers PW, Kurtzman NA, Bunn SM, White MG (February 1973). "Familial benign essential hematuria". Arch. Intern. Med. 131 (2): 257–62. PMID 4682986.
- ↑ Hostikka SL, Eddy RL, Byers MG, Höyhtyä M, Shows TB, Tryggvason K (February 1990). "Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome". Proc. Natl. Acad. Sci. U.S.A. 87 (4): 1606–10. doi:10.1073/pnas.87.4.1606. PMC 53524. PMID 1689491.
- ↑ Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (June 1990). "Identification of mutations in the COL4A5 collagen gene in Alport syndrome". Science. 248 (4960): 1224–7. doi:10.1126/science.2349482. PMID 2349482.