首页> 中文期刊> 《中国医学科学杂志:英文版》 >1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病(英文)

1例因纤维连接蛋白编码基因Y973C突变导致的纤维连接蛋白肾小球病(英文)

         

摘要

Fibronectin glomerulopathy is a rare autosomal dominant inherited glomerular disease associated with massive deposition of fibronectin.We recently diagnosed fibronectin glomerulopathy in a 29-year-old woman presenting nephrotic syndrome.Genetic analysis of fibronectin 1 gene showed heterozygosity for the Y973C mutation.However,this mutation was not found in her parents.She had stable renal function but persistent nephrotic proteinuria after one-year follow-up.

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