Alport 综合征 1，X 连锁
基因病名称(英)
Alport syndrome 1, X-linked
关键字(英)
Alport syndrome,Deafness
别名(英)
Nephritis-deafness syndrome, X-linked,Nephropathy and deafness, X-linked
别名
肾炎-耳聋综合征，X 连锁，肾病和耳聋，X 连锁
统计
reviewed:1; annotated:0
交叉引用
301050,C0403444,C1567742,D009394
描述(英)
A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
描述
一种以进行性肾小球肾炎、肾功能衰竭、感觉神经性耳聋、特定眼部异常（豆状体和黄斑斑点）和肾小球基底膜缺损为特征的综合征。该疾病显示出相当大的异质性，因为家庭在终末期肾病的年龄和耳聋的发生方面存在差异。