Abstract
Glomerulopathy with fibronectin deposits (GFND) is a rare familial aggregation of autosomal dominant nephropathy. Proteinuria, hematuria, hypertension and progressive deterioration of renal function are the main clinical manifestations, which eventually develop into end-stage renal disease (ESRD). This report presents the clinical data and treatment process of a family with GFND caused by a fibronectin 1 (FN1) gene mutation. The proband was 12-year-old female patient diagnosed with GFND, who was admitted to the Department of Pediatric Nephrology, First People's Hospital of Yunnan Province, in November 2019 following the detection of proteinuria during a routine urinalysis. Genetic testing revealed the presence of the FN1 gene:c.2918A>G (p.Tyr973Cys)mutation in the patient, her father, and her sister, while no mutation was identified in her mother, consistent with previous reports. Summarized the literature reported of perfected the FN1 gene testing for GFND and analyzed the relationship between the gene and the clinical manifestations and prognosis of the disease. The reports showed that clinical heterogeneity even among family members with the same mutation. Additionally, GFND can recur after kidney transplantation. The link between gene mutations and clinical outcomes remains unclear and needs further study.