A Case of Familial Glomerulopathy With Fibronectin Deposits Caused by the Y973C Mutation in Fibronectin
A Case of Familial Glomerulopathy With Fibronectin Deposits Caused by the Y973C Mutation in Fibronectin
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DOI：
10.1053/j.ajkd.2012.08.050
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发表时间：
2013-03-01
影响因子：
13.2
通讯作者：
Piras, Rossella
中科院分区：
文献类型：
--
作者：
Baydar, Dilek Ertoy;Kutlugun, Aysun Aybal;Piras, Rossella
纤维连接蛋白沉积性肾小球病是一种罕见的遗传性肾脏疾病，其特征是纤维连接蛋白在肾小球，特别是在系膜区和内皮下区广泛沉积。在预后方面，这种疾病被称为缓慢进展，在大多数情况下导致肾衰竭。我们最近诊断一位24岁的男性患者为纤维连结蛋白沉积性肾小球病，其蛋白尿被偶然检测到。纤连蛋白1（FN 1）基因的遗传分析显示Y 973 C突变的杂合性。在他的哥哥身上也发现了同样的突变，他同样经历了蛋白尿。两名患者的肾功能均正常，但分别在随访30个月和11年后出现持续性蛋白尿。美国肾脏病杂志61（3）：514-518。(C)2013年，美国国家肾脏基金会（National Kidney Foundation，Inc.）
Glomerulopathy with fibronectin deposits is a rare hereditary kidney disease characterized by the extensive deposition of fibronectin in glomeruli, particularly in mesangial regions and subendothelial zones. Prognostically, the disease is known as slowly progressive, leading to kidney failure in most cases. We recently diagnosed glomerulopathy with fibronectin deposits in a 24-year-old man in whom proteinuria was detected incidentally. Genetic analysis of the fibronectin 1 (FN1) gene showed heterozygosity for the Y973C mutation. The same mutation was found in his elder brother, who similarly experienced proteinuria. Both patients had normal kidney function but persistent proteinuria after 30 months and 11 years of follow-up, respectively. Am J Kidney Dis. 61(3):514-518. (C) 2013 by the National Kidney Foundation, Inc.