Early Diagnosis of Alport′s Syndrome in 5 Children and Literature Reviews / 实用儿科临床杂志

ABSTRACT

Objective To explore the early diagnosis of Alport′s syndrome(AS).Methods Renal and skin biopsy was carried out in 5 patients who manifested with isolated hematuria and nephritic syndrome(NS).By using indirect immunofluorescence method,the expression of type Ⅳ collagen ? chains was detected on epidermal basement membrane(EBM) and glomerular basement membrane(GBM).Results ?_1 chains on EBM and GBM were expression in all patients,but ?_5 chains on EBM and ?_3,?_5 chains on GBM form 2 female patients were segmental expression.Thus the goal for early diagnosis was achieved.Conclusions ? chains for EBM type Ⅳ collagen and GBM type Ⅳ collegan should be investigated if condition permits for those patients with isolated hematuria,NS(steroid-resistant) and thinned GBM in electron microscopy.It can be useful for diagnosis and differenial diagnosis of AS.