早期诊断Alport′s综合征5例及文献复习

Early Diagnosis of Alport′s Syndrome in 5 Children and Literature Reviews

目的探讨早期诊断Alport′s综合征(AS)的方法及文献复习。方法临床表现为孤立性血尿和肾病综合征(NS)5例,均行肾组织光镜、免疫荧光电镜检查和皮肤基底膜(EBM)Ⅳ型胶原α链免疫测定,2例行肾小球基底膜(GBM)Ⅳ型胶原α链免疫测定。结果患儿光镜均表现肾小球轻微病变或局灶节段增生,电镜表现肾小球基底膜弥漫性变薄,无诊断意义。患儿EBM和GBMα1均(+)连续,但3例男童EBMα5链(-)、GBMα3、α5(-);2例女童EBMα5(+)但不连续,GBMα3、α5(+)但不连续,达到早期诊断目的。结论对于孤立性血尿、NS(激素治疗耐药),肾活检电镜表现基底膜变薄患儿,有条件应常规进行皮肤和GBMⅣ型胶原α链检测,为诊断和鉴别诊断提供依据。

Objective To explore the early diagnosis of Alpon＇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 α chains was detected on epidermal basement membrane（EBM） and glomerular basement membrane（GBM）. Results α1 chains on EBM and GBM were expression in all patients, but α5 chains on EBM and α3, α5 chains on GBM form 2 female patients were segmental expression. Thus the goal for early diagnosis was achieved. Conclusions α 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, h can be useful for diagnosis and differenial diagnosis of AS.