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dc.contributor.authorRana, Keshaen
dc.contributor.authorWang, Yan Yanen
dc.contributor.authorBuzza, Marken
dc.contributor.authorTonna, Stephenen
dc.contributor.authorZhang, Ke Weien
dc.contributor.authorLin, Tinaen
dc.contributor.authorSin, Lydiaen
dc.contributor.authorPadavarat, Smithaen
dc.contributor.authorSavige, Judy Aen
dc.identifier.citationSeminars in Nephrology; 25(3): 163-70en
dc.description.abstractThe diagnosis of thin basement membrane nephropathy (TBMN) usually is made on the basis of the clinical features or the glomerular membrane ultrastructural appearance. Only now are we beginning to understand the genetics of TBMN and the role of diagnostic genetic testing. The similarity of clinical and glomerular membrane features first suggested TBMN might represent the carrier state for autosomal-recessive Alport syndrome. This was confirmed subsequently by the demonstration that 40% of families with TBMN have hematuria that segregates with the corresponding locus ( COL4A3/COL4A4 ), and identical mutations occur in both conditions. To date, about 20 COL4A3 and COL4A4 mutations have been shown in TBMN, and these mainly are single nucleotide substitutions that are different in each family. The families in whom hematuria does not appear to segregate with the COL4A3/COL4A4 locus cannot all be explained by de novo mutations, and nonpenetrant or coincidental hematuria. This suggests a further TBMN locus. In patients with persistent hematuria, testing for COL4A3 and COL4A4 mutations to diagnose TBMN is problematic because of the huge size of these genes, their frequent polymorphisms, and the likelihood of a further gene locus. It is far more practicable to perform genetic testing to exclude or confirm X-linked Alport syndrome because this condition is the major differential diagnosis of TBMN and has a very different prognosis.en
dc.subject.otherCollagen Type IV.geneticsen
dc.subject.otherDiagnosis, Differentialen
dc.subject.otherGene Frequencyen
dc.subject.otherGenetic Techniquesen
dc.subject.otherGlomerulonephritis, Membranous.diagnosis.genetics.metabolismen
dc.subject.otherPolymorphism, Geneticen
dc.titleThe genetics of thin basement membrane nephropathy.en
dc.typeJournal Articleen
dc.identifier.journaltitleSeminars in nephrologyen
dc.identifier.affiliationDepartment of Medicine, University of Melbourne, Austin Health/Northern Health, The Northern Hospital, Epping, Victoria, Australiaen
dc.type.austinJournal Articleen
item.openairetypeJournal Article-
item.fulltextNo Fulltext-
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