Chinese Medical Sciences Journal ›› 2018, Vol. 33 ›› Issue (1): 60-63.doi: 10.24920/31802

• Case Reports • Previous Articles     Next Articles

Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review

Li Chao, Wen Yubing, Li Hang, Li Mingxi, Li Xuewang, Li Xuemei()   

  1. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
  • Received:2017-07-11 Online:2018-03-30 Published:2018-04-05
  • Contact: Li Xuemei E-mail:lixmpumch@126.com
  • About author:The authors reports a case of fibronectin glomerulopathy occurred in a 29-year-old woman presenting nephrotic syndrome. Genetic analysis of the fibronectin 1 gene showed heterozygosity for the Y973C mutation.
The authors reports a case of fibronectin glomerulopathy occurred in a 29-year-old woman presenting nephrotic syndrome. Genetic analysis of the fibronectin 1 gene showed heterozygosity for the Y973C mutation.

Abstract:

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.

Key words: fibronectins, nephrotic syndrome, mutation

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