Thin basement membrane disease historical perspective
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Overview
Thin basement membrane disease historical perspective|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, immunofluoroscence. [1] Then P. W. Rogers used electron microscopy to analyse the association between recurrent asymptomatic hematuria and thin glomerular basement membrane is discovered in 1973. [2] 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 2 and the recurrence of X-linked and autosomal alport syndrome.[3] [4] [5] Mutation in COL4A3 and COL4A4 was found to cause Benign familial hematuria in 1996.[6]
References
- ↑ Marks MI, Drummond KN (October 1969). "Benign familial hematuria". Pediatrics. 44 (4): 590–3. PMID 4899625.
- ↑ 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.