Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.
Alport familial nephritis. Absence of 28 kilodalton non-collagenous monomers of type IV collagen in glomerular basement membrane.
复制标题
阿尔波特家族性肾炎。
DOI：
10.1172/jci113057
复制
发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Michael,AF
中科院分区：
文献类型：
--
作者：
Kleppel,MM;Kashtan,CE;Butkowski,RJ;Fish,AJ;Michael,AF
Alport型家族性肾炎（FN）是一种遗传性疾病，可导致进行性肾功能不全和感音神经性听力损失。从患有这种疾病的三名男性的肾小球基底膜（GBM）中分离的IV型胶原的非胶原（NC 1）结构域的免疫化学和生物化学分析表明，正常存在的28千道尔顿（kD）NC 1单体缺失，但分别来自α 1和2（均为IV型）胶原链的26和24 kD单体亚基持续存在。
Alport-type familial nephritis (FN), a genetic disorder, results in progressive renal insufficiency and sensorineural hearing loss. Immunochemical and biochemical analyses of the non-collagenous (NC1) domain of type IV collagen isolated from the glomerular basement membranes (GBM) of three males with this disease demonstrate absence of the normally occurring 28-kilodalton (kD) NC1 monomers, but persistence of the 26- and 24-kD monomeric subunits derived from alpha 1 and 2 (both type IV) collagen chains, respectively.Images