Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review

Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at...

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Autores principales: Xia, Ming‐Feng, Bian, Hua, Liu, Hong, Wu, Hui‐Juan, Zhang, Zhi‐Gang, Lu, Zhi‐Qiang, Gao, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412754/
https://www.ncbi.nlm.nih.gov/pubmed/28469853
http://dx.doi.org/10.1002/ccr3.874
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author Xia, Ming‐Feng
Bian, Hua
Liu, Hong
Wu, Hui‐Juan
Zhang, Zhi‐Gang
Lu, Zhi‐Qiang
Gao, Xin
author_facet Xia, Ming‐Feng
Bian, Hua
Liu, Hong
Wu, Hui‐Juan
Zhang, Zhi‐Gang
Lu, Zhi‐Qiang
Gao, Xin
author_sort Xia, Ming‐Feng
collection PubMed
description Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations.
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spelling pubmed-54127542017-05-03 Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review Xia, Ming‐Feng Bian, Hua Liu, Hong Wu, Hui‐Juan Zhang, Zhi‐Gang Lu, Zhi‐Qiang Gao, Xin Clin Case Rep Case Reports Gitelman syndrome is an autosomal recessive disease mostly associated with loss‐of‐function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations. John Wiley and Sons Inc. 2017-03-17 /pmc/articles/PMC5412754/ /pubmed/28469853 http://dx.doi.org/10.1002/ccr3.874 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Xia, Ming‐Feng
Bian, Hua
Liu, Hong
Wu, Hui‐Juan
Zhang, Zhi‐Gang
Lu, Zhi‐Qiang
Gao, Xin
Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review
title Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review
title_full Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review
title_fullStr Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review
title_full_unstemmed Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review
title_short Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review
title_sort hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: gitelman syndrome in a chinese pedigree and literature review
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412754/
https://www.ncbi.nlm.nih.gov/pubmed/28469853
http://dx.doi.org/10.1002/ccr3.874
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