Thin basement membrane disease
Template:DiseaseDisorder infobox
|
Thin basement membrane disease Microchapters |
|
Differentiating Thin basement membrane disease from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Thin basement membrane disease On the Web |
|
American Roentgen Ray Society Images of Thin basement membrane disease |
|
Directions to Hospitals Treating Thin basement membrane disease |
|
Risk calculators and risk factors for Thin basement membrane disease |
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
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] [9] Mutation in COL4A3 and COL4A4 was found to cause Benign familial hematuria in 1996.[10]
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.
- ↑ Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schröder CH, Smeets HJ (September 1994). "Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome". Nat. Genet. 8 (1): 77–81. doi:10.1038/ng0994-77. PMID 7987396.
- ↑ Lemmink HH, Nillesen WN, Mochizuki T, Schröder CH, Brunner HG, van Oost BA, Monnens LA, Smeets HJ (September 1996). "Benign familial hematuria due to mutation of the type IV collagen alpha4 gene". J. Clin. Invest. 98 (5): 1114–8. doi:10.1172/JCI118893. PMID 8787673.