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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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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. |
format | Online Article Text |
id | pubmed-8088595 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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