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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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. |
format | Online Article Text |
id | pubmed-5588616 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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