Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review

BMC Nephrology

Case Report

Hideki Yotsueda¹  Misaki Takii¹  Aya Shima¹  Takaichi Suehiro²  Satoshi Hisano³  Ritsuko Katafuchi⁴ 

[1] Department of Nephrology, Harasanshin Hospital, Fukuoka, Japan;Department of Nephrology, Harasanshin Hospital, Fukuoka, Japan;Department of Internal Medicine, Social Insurance Nakabaru Hospital, 2-12-1 Befukita, Shimemachi, Kasuya-gun, 811-2233, Fukuoka, Japan;Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan;Kidney Unit, National Fukuoka-Higashi Medical Center, Fukuoka, Japan;

关键词: Fibronectin glomerulopathy;    Fibronectin 1 gene;    Congenital esophageal atresia;    Persistent cloaca;   

DOI  :  10.1186/s12882-017-0704-5

 received in 2017-02-14, accepted in 2017-08-22,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundFibronectin glomerulopathy is a rare, inherited, autosomal dominant, glomerular disease characterized by proteinuria, microscopic hematuria, hypertension, massive glomerular deposits of fibronectin, and slow progression to end-stage renal failure. Because the incident of fibronectin glomerulopathy is extremely low, the pathophysiology, genetic abnormalities, epidemiology, and mechanisms remain to be elucidated.Case presentationWe report a 21-year-old woman with fibronectin glomerulopathy, who had been diagnosed with persistent cloaca and congenital esophageal atresia at birth. She developed proteinuria and hematuria 7 months before admission. Urinary protein and serum creatinine levels were 3.38 g/gCr and 0.73 mg/dL. Renal biopsy showed severe mesangial widening due to massive deposits, which was positive periodic acid-Schiff and negative methenamine silver. Immunostaining was negative for immunoglobulin but positive for fibronectin. Electron microscopy showed diffuse mesangial granular deposits. Thus she was diagnosed with fibronectin glomerulopathy, despite a negative family history of kidney disease and lack of any known missense mutations of fibronectin 1 gene.ConclusionWe report a patient who developed fibronectin glomerulopathy during the clinical course of extremely rare congenital malformations, including persistent cloaca and congenital esophageal atresia. We describe a case of this condition in detail and summarize the 75 case reports of fibronectin glomerulopathy.

【 授权许可】

CC BY   
© The Author(s). 2017