Immunohistochemical study for the diagnosis of Alport's syndrome.

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dc.contributor.authorWongtrakul, Pimpongen_US
dc.contributor.authorShayakul, Chairaten_US
dc.contributor.authorParichatikanond, Paisalen_US
dc.contributor.authorSuthipinittharm, Puanen_US
dc.contributor.authorAmjaroen, Chalongraten_US
dc.contributor.authorKaewkaukul, Naparaten_US
dc.contributor.authorVongirad, Arunen_US
dc.contributor.authorOngajyooth, Leenaen_US
dc.date.accessioned2009-05-27T20:24:55Z
dc.date.available2009-05-27T20:24:55Z
dc.date.issued2006-11-28en_US
dc.descriptionChotmaihet Thangphaet.en_US
dc.description.abstractBACKGROUND: Alport's syndrome (AS) is the most common cause of inherited glomerular disease in Thailand. The majority of cases show X-linked inheritance, which is caused by mutations in the gene coding for the alpha5 chain of type IV collagen in the glomerular basement membrane (GBM) and epidermal basement membrane (EBM). Such mutation usually leads to a reduction in protein amount, thus, immunohistochemical studies have been considered in diagnostic evaluation. OBJECTIVE: To study the expression of alpha[IV] collagen chains in the skin as an alternative approach to diagnose AS. MATERIAL AND METHOD: Eleven unrelated probands with proven AS, 7 relatives with abnormal urinalysis, 4 suspected individuals, and 8 normal controls were enrolled. A punch skin biopsy and immunofluorescence staining of the tissue specimens for alpha1, alpha3 and alpha5[IV] collagen chains was performed. RESULTS: The alpha5[IV] chain was absent in the EBM in all male AS patients while a discontinuing pattern was observed in all females except one. The findings are specific for AS with a sensitivity of 91%. Studies in relatives and suspected individuals also confirmed the advantage of this approach as demonstrated by the absence and discontinuation of alpha5[IV] staining in all males and females, respectively. We also analyzed their expressions in the kidney tissue and demonstrated abnormal alpha3 and alpha5[IV] staining in five of six samples. CONCLUSION: Immunohistochemical study of the skin should be used as a screening method in patients suspected of AS, as it is much less invasive. Moreover, it is a useful adjunct to conventional examination of biopsied renal tissue.en_US
dc.description.affiliationRenal Division, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.en_US
dc.identifier.citationWongtrakul P, Shayakul C, Parichatikanond P, Suthipinittharm P, Amjaroen C, Kaewkaukul N, Vongirad A, Ongajyooth L. Immunohistochemical study for the diagnosis of Alport's syndrome. Journal of the Medical Association of Thailand. 2006 Nov; 89 Suppl 5(): S171-81en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/42955
dc.language.isoengen_US
dc.source.urihttps://www.mat.or.th/journal/all.phpen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAdulten_US
dc.subject.meshBiopsyen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshCollagen Type IVen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshImmunohistochemistryen_US
dc.subject.meshKidney --immunologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMass Screeningen_US
dc.subject.meshMutationen_US
dc.subject.meshNephritis, Hereditary --diagnosisen_US
dc.subject.meshThailanden_US
dc.titleImmunohistochemical study for the diagnosis of Alport's syndrome.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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