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Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review
- Source :
- cmsj. 33:60-63
- Publication Year :
- 2018
- Publisher :
- Chinese Medical Sciences Journal, 2018.
-
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.
- Subjects :
- Adult
0301 basic medicine
Pathology
medicine.medical_specialty
Glomerulonephritis, Membranoproliferative
030232 urology & nephrology
Renal function
Fibronectin glomerulopathy
medicine.disease_cause
Loss of heterozygosity
03 medical and health sciences
0302 clinical medicine
Fibronectin 1 Gene
medicine
Humans
Glomerular disease
Mutation
biology
business.industry
General Medicine
medicine.disease
Fibronectins
Fibronectin
030104 developmental biology
biology.protein
Female
business
Nephrotic syndrome
Subjects
Details
- ISSN :
- 10019294
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- cmsj
- Accession number :
- edsair.doi.dedup.....abe4b1eb684501890345745a36e4bcfb
- Full Text :
- https://doi.org/10.24920/31802