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Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review

Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50‐year‐old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocal...

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Autores principales: Gu, Xiangchen, Su, Zheling, Chen, Min, Xu, Yanqiu, Wang, Yi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099516/
https://www.ncbi.nlm.nih.gov/pubmed/28685938
http://dx.doi.org/10.1111/nep.13045
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author Gu, Xiangchen
Su, Zheling
Chen, Min
Xu, Yanqiu
Wang, Yi
author_facet Gu, Xiangchen
Su, Zheling
Chen, Min
Xu, Yanqiu
Wang, Yi
author_sort Gu, Xiangchen
collection PubMed
description Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50‐year‐old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria, all of which met the diagnostic criteria for GS. Diagnostic evaluation identified primary SS as the cause of the acquired GS. Light microscopy of the renal tissue from the patient showed severe membranoproliferative glomerunephritis and tubulointerstitial nephritis. Immunohistochemical staining of the renal tissue showed the absence of sodium‐chloride co‐transporter (NCCT) in distal convoluted tubules. Genetic analysis of chromosomal DNA extracted from the patient's peripheral blood showed SLC12A3 gene heterozygous mutation. The reported case was comprehensively analyzed on the basis of the clinical features, and laboratory, pathological and genetic test findings. The patient has achieved a complete remission after meticulous care and appropriate treatment.
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spelling pubmed-60995162018-08-24 Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review Gu, Xiangchen Su, Zheling Chen, Min Xu, Yanqiu Wang, Yi Nephrology (Carlton) Brief Communications Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50‐year‐old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria, all of which met the diagnostic criteria for GS. Diagnostic evaluation identified primary SS as the cause of the acquired GS. Light microscopy of the renal tissue from the patient showed severe membranoproliferative glomerunephritis and tubulointerstitial nephritis. Immunohistochemical staining of the renal tissue showed the absence of sodium‐chloride co‐transporter (NCCT) in distal convoluted tubules. Genetic analysis of chromosomal DNA extracted from the patient's peripheral blood showed SLC12A3 gene heterozygous mutation. The reported case was comprehensively analyzed on the basis of the clinical features, and laboratory, pathological and genetic test findings. The patient has achieved a complete remission after meticulous care and appropriate treatment. John Wiley and Sons Inc. 2017-07-06 2017-08 /pmc/articles/PMC6099516/ /pubmed/28685938 http://dx.doi.org/10.1111/nep.13045 Text en © 2017 The Authors Nephrology © 2017 Asian Pacific Society of Nephrology This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Brief Communications
Gu, Xiangchen
Su, Zheling
Chen, Min
Xu, Yanqiu
Wang, Yi
Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
title Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
title_full Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
title_fullStr Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
title_full_unstemmed Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
title_short Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review
title_sort acquired gitelman syndrome in a primary sjögren syndrome patient with a slc12a3 heterozygous mutation: a case report and literature review
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099516/
https://www.ncbi.nlm.nih.gov/pubmed/28685938
http://dx.doi.org/10.1111/nep.13045
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