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10.1186/s12882-017-0704-5

http://scihub22266oqcxt.onion/10.1186/s12882-017-0704-5
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C5588616!5588616!28877681
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suck abstract from ncbi


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pmid28877681      BMC+Nephrol 2017 ; 18 (ä): ä
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  • Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review #MMPMID28877681
  • Takii M; Suehiro T; Shima A; Yotsueda H; Hisano S; Katafuchi R
  • BMC Nephrol 2017[]; 18 (ä): ä PMID28877681show ga
  • Background: Fibronectin 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 presentation: We 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. Conclusion: We 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.
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