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

Chao Li | Zendy; Yubing Wen | Zendy; Hang Li | Zendy; Mingxi Li | Zendy; Xuewang Li | Zendy; Xuemei Li | Zendy

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

Author(s) -

Chao Li,

Yubing Wen,

Hang Li,

Mingxi Li,

Xuewang Li,

Xuemei Li

Publication year - 2018

Publication title -

chinese medical sciences journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.215

H-Index - 21

ISSN - 1001-9294

DOI - 10.24920/31802

Subject(s) - fibronectin , glomerulopathy , medicine , nephrotic syndrome , proteinuria , mutation , pathology , genetics , gene , kidney , extracellular matrix , biology

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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