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纤维连接蛋白肾小球病研究进展

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摘要 纤维连接蛋白肾小球病是因纤维连接蛋白沉积引起的一种罕见的遗传性肾小球病,通常表现为蛋白尿、不同程度的血尿、高血压及进展缓慢的肾功能减退。其发病主要与纤维连接蛋白1基因的突变有关,目前报道的与纤维连接蛋白肾小球病可能有关的基因突变有:p.Tyr973Cys、p.Trp1925Arg、p.Leu1974Arg、p.Pro969Leu、p.Pro1472del、p.Trp1925Cys、p.Lys1953_Ile1961del和p.Leu1974Pro。
作者 吴静 唐政
出处 《江苏医药》 CAS 2017年第14期1033-1036,共4页 Jiangsu Medical Journal
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