[Immunohistochemical study of type IV collagen chain distribution within basement membrane in patients with Alport syndrome].

To observe the distribution of type IV collagen chains within basement membrane in patients with Alport syndrome (AS), discuss the pathogenesis of AS and assess the diagnostic value of indirect immunofluorescent study of type IV collagen chains. By using indirect immunofluorescence technique, the distribution of different chains of type IV collagen in specimen of renal (6 specimens) and skin (5 specimens) basement membrane of 8 AS patients belonging to 7 kindreds were investigated. In 4 male patients with X-linked dominant (XD) AS, the specific monoclonal antibodies against NC1 domains of the alpha 3, alpha 4 and alpha 5 chains of type IV collagen failed to localize on glomerular basement membrane (GBM) and the alpha 5 chain of type IV collagen were also absent in the epidermal basement membrane (EBM). The results of immunofluorescent study were positive in 3 autosomal dominant and 1 autosomal recessive AS patients as same as that in control. AS presents a biochemical abnormality of type IV collagen. The pathogenesis of XD-AS may associate with the abnormal products of alpha 5 chain. The immunofluorescent study of type IV collagen chains distribution within GBM and EBM by using monoclonal antibodies is useful in confirming the diagnosis of AS, especially XD-AS.