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Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis

Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagno...

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Autores principales: Jalalzadeh, Mojgan, Garcia Goncalves de Brito, David, Chaudhari, Shobhana, Poor, Armeen D, Baumstein, Donald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088595/
https://www.ncbi.nlm.nih.gov/pubmed/33954067
http://dx.doi.org/10.7759/cureus.14253
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author Jalalzadeh, Mojgan
Garcia Goncalves de Brito, David
Chaudhari, Shobhana
Poor, Armeen D
Baumstein, Donald
author_facet Jalalzadeh, Mojgan
Garcia Goncalves de Brito, David
Chaudhari, Shobhana
Poor, Armeen D
Baumstein, Donald
author_sort Jalalzadeh, Mojgan
collection PubMed
description Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS.
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spelling pubmed-80885952021-05-04 Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis Jalalzadeh, Mojgan Garcia Goncalves de Brito, David Chaudhari, Shobhana Poor, Armeen D Baumstein, Donald Cureus Endocrinology/Diabetes/Metabolism Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria. It is caused by mutations in gene SLC12A3 (located in chromosome 16q) encoding NaCl cotransporter. GS is usually asymptomatic for several years and is diagnosed in late childhood or adulthood. The association between GS and diabetic ketoacidosis (DKA) is rare. We present a case of a 25-year-old man with newly diagnosed diabetes mellitus and DKA with profound hypokalemia and hypomagnesemia who was provisionally found to have GS. Cureus 2021-04-02 /pmc/articles/PMC8088595/ /pubmed/33954067 http://dx.doi.org/10.7759/cureus.14253 Text en Copyright © 2021, Jalalzadeh et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Jalalzadeh, Mojgan
Garcia Goncalves de Brito, David
Chaudhari, Shobhana
Poor, Armeen D
Baumstein, Donald
Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
title Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
title_full Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
title_fullStr Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
title_full_unstemmed Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
title_short Gitelman Syndrome Provisionally Diagnosed During the First Presentation of Diabetic Ketoacidosis
title_sort gitelman syndrome provisionally diagnosed during the first presentation of diabetic ketoacidosis
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088595/
https://www.ncbi.nlm.nih.gov/pubmed/33954067
http://dx.doi.org/10.7759/cureus.14253
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