Alport综合征的实验室检查

Diagnostic tests for Alport syndrome

Alport综合征是一种遗传性肾小球疾病,以血尿、肾衰竭、感音神经性耳聋和眼部异常为主要临床表现,因COL4A5基因（X连锁性Alport综合征）或COL4A3和COL4A4基因（常染色体隐性遗传性Alport综合征）突变所致.肾活检组织电镜检查可以观察到该病特征性的病理改变为肾小球基底膜致密层薄厚不均,并有分层、断裂.皮肤和肾活检组织基底膜中Ⅳ型胶原α链免疫荧光学检查可用于诊断X连锁显性遗传性Alport综合征患者、筛查基因携带者以及判断遗传型.检测、分析Alport综合征致病基因基因,不但有助于遗传咨询,而且能够确定基因携带者和进行产前基因诊断,也有助于临床和病理检查结果均不确定病例的诊断.

Alport syndrome, characterized by hematuria, renal failure, sensorineural deafness, and ocular abnormalities, is an inherited glomerular disease caused by mutations in the COL4A5 （X-linked）, or COL4A3 and COL4A4 （autosomal recessive） genes.The ultrastructural changes of Alport syndrome can be observed in the electron microscopic analysis of renal biopsies, which are characterized by irregular thinning/thickening, layering and splitting dense layer of the glomerular basement membrane.In the basement membrane of skin and renal biopsy tissue, type IV collagen α chain immunofluorescence test can be used to diagnose Alport syndrome, screen the carriers and determine the mode of inheritance.The analysis and detection of Alport syndrome gene are not only useful for genetic counseling, but also useful for identification of gene carriers, prenatal diagnosis, and identification of suspected patients who can not be confirmed by clinical and pathological examination results.