Fibronectin glomerulopathy - A sporadic case with unusual clinical manifestation

• Main Authors: Surya Narayan Mandal, Sumita Shrivastava, Rossella Piras, Swarnalata Gowrishankar
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2017-01-01
• Series: Saudi Journal of Kidney Diseases and Transplantation
• Online Access: http://www.sjkdt.org/article.asp?issn=1319-2442;year=2017;volume=28;issue=6;spage=1416;epage=1420;aulast=Mandal

A 22-year-old nondiabetic young Indian female presented with short history of dyspnea, anorexia, and bilateral leg swelling. Her laboratory evaluation showed severe anemia, serum creatinine of 11.89 mg/dL, nephrotic range proteinuria and microscopic hematuria with 6–8 red blood cell/high-power field. Renal biopsy showed brightly eosinophilic, periodic acid-Schiff (PAS) positive, silver negative, and fuschinophilic deposits in the mesangium extending around the capillary loops with thickening of the basement membrane. Immunohistochemistry was strongly positive for fibronectin (FN). There was no family history of renal disease. Genetic screening revealed absence of mutations in the FN1 gene. She was put on maintenance hemodialysis.