A case of familial glomerulopathy with fibronectin deposits caused by the Y973C mutation in fibronectin.
Am J Kidney Dis
; 61(3): 514-8, 2013 Mar.
Article
em En
| MEDLINE
| ID: mdl-23219110
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article