Yamazaki H, Saito A, Nakagawa Y, Arakawa M
Department of Medicine (II), Niigata University School of Medicine.
Nihon Rinsho. 1992 Dec;50(12):3021-6.
Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by sensorineural deafness. Ultrastructural studies in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered GBM protein structure as the cause of nephritis. The product of COL4A5, the alpha 5 (IV) collagen chain, is a specific component of GBM of the kidney. Various mutations in the COL4A5 gene have been identified in X-linked dominant Alport syndrome, and these aberrations of the alpha 5 (IV) can account for at least a part of X-linked Alport syndrome.
奥尔波特综合征是一种遗传性肾小球肾炎，其肾功能进行性丧失常伴有感音神经性耳聋。对奥尔波特综合征患者肾小球基底膜（GBM）的超微结构研究表明，GBM蛋白质结构改变是肾炎的病因。COL4A5基因的产物α5（IV）胶原链是肾脏GBM的一种特定成分。在X连锁显性奥尔波特综合征中已鉴定出COL4A5基因的各种突变，而这些α5（IV）的异常至少可以解释部分X连锁奥尔波特综合征。
