BMC Nephrology | |
Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review | |
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
【 预 览 】
Files | Size | Format | View |
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RO202311104980256ZK.pdf | 2670KB | download |
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