Alport综合征的诊治研究进展

Advance in diagnosis and therapy of Alport syndrome

Alport综合征（Alport syndrome，AS）是一种以血尿、进行性肾功能减退，常伴有神经性耳聋和眼部病变为临床特征的遗传性肾小球基底膜疾病，其发病机制为编码Ⅳ型胶原基因突变。AS的诊断需结合临床表现、肾脏病理改变和免疫荧光学检查及基因诊断等方面综合判断。目前AS尚无根治措施。随着AS发病机制的不断明确，基因诊断和治疗的研究已取得一些成果。

Alport syndrome （AS） is a hereditary glomerular basement membrane disease characterized by hematuria, progressive renal hypofunction, usually with nervous deafness and ocular lesions, and its pathogenesis is the mutation in genes encoding the type Ⅳ collagen. Diagnosis of AS should combine with clinical manifestations, renal pathologic changes, immunofluorescence examination and gene diagnosis. At present, AS hasnt had any cure measure yet. As the pathogenesis of AS is much clearer in recent years, the researches of gene diagnosis and gene therapy have got some gratifying achievements.