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

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 glom...

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Autores principales: Takii, Misaki, Suehiro, Takaichi, Shima, Aya, Yotsueda, Hideki, Hisano, Satoshi, Katafuchi, Ritsuko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588616/
https://www.ncbi.nlm.nih.gov/pubmed/28877681
http://dx.doi.org/10.1186/s12882-017-0704-5
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author Takii, Misaki
Suehiro, Takaichi
Shima, Aya
Yotsueda, Hideki
Hisano, Satoshi
Katafuchi, Ritsuko
author_facet Takii, Misaki
Suehiro, Takaichi
Shima, Aya
Yotsueda, Hideki
Hisano, Satoshi
Katafuchi, Ritsuko
author_sort Takii, Misaki
collection PubMed
description 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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spelling pubmed-55886162017-09-14 Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review Takii, Misaki Suehiro, Takaichi Shima, Aya Yotsueda, Hideki Hisano, Satoshi Katafuchi, Ritsuko BMC Nephrol Case Report 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. BioMed Central 2017-09-06 /pmc/articles/PMC5588616/ /pubmed/28877681 http://dx.doi.org/10.1186/s12882-017-0704-5 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Takii, Misaki
Suehiro, Takaichi
Shima, Aya
Yotsueda, Hideki
Hisano, Satoshi
Katafuchi, Ritsuko
Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
title Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
title_full Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
title_fullStr Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
title_full_unstemmed Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
title_short Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
title_sort fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588616/
https://www.ncbi.nlm.nih.gov/pubmed/28877681
http://dx.doi.org/10.1186/s12882-017-0704-5
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