Cargando…
A man with a worrying potassium deficiency
Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gi...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965273/ https://www.ncbi.nlm.nih.gov/pubmed/24683481 http://dx.doi.org/10.1530/EDM-13-0067 |
_version_ | 1782479317099347968 |
---|---|
author | Tabasum, A Shute, C Datta, D George, L |
author_facet | Tabasum, A Shute, C Datta, D George, L |
author_sort | Tabasum, A |
collection | PubMed |
description | Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes. LEARNING POINTS: Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies. GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people. GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene. |
format | Online Article Text |
id | pubmed-3965273 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-39652732014-03-28 A man with a worrying potassium deficiency Tabasum, A Shute, C Datta, D George, L Endocrinol Diabetes Metab Case Rep Unique/Unexpected Symptoms or Presentations of a Disease Hypokalaemia may present as muscle cramps and Cardiac arrhythmias. This is a condition commonly encountered by endocrinologists and general physicians alike. Herein, we report the case of a 43-year-old gentleman admitted with hypokalaemia, who following subsequent investigations was found to have Gitelman's syndrome (GS). This rare, inherited, autosomal recessive renal tubular disorder is associated with genetic mutations in the thiazide-sensitive sodium chloride co-transporter and magnesium channels in the distal convoluted tubule. Patients with GS typically presents at an older age, and a spectrum of clinical presentations exists, from being asymptomatic to predominant muscular symptoms. Clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Treatment of GS consists of long-term potassium and magnesium salt replacement. In general, the long-term prognosis in terms of preserved renal function and life expectancy is excellent. Herein, we discuss the biochemical imbalance in the aetiology of GS, and the case report highlights the need for further investigations in patients with recurrent hypokalaemic episodes. LEARNING POINTS: Recurrent hypokalaemia with no obvious cause warrants investigation for hereditary renal tubulopathies. GS is the most common inherited renal tubulopathy with a prevalence of 25 per million people. GS typically presents at an older age and clinical suspicion should be raised in those with hypokalaemic metabolic alkalosis associated with hypomagnesaemia. Confirmation of diagnosis is by molecular analysis for mutation in the SLC12A3 gene. Bioscientifica Ltd 2014-02-01 2014 /pmc/articles/PMC3965273/ /pubmed/24683481 http://dx.doi.org/10.1530/EDM-13-0067 Text en © 2014 The authors This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License (http://creativecommons.org/licenses/by/3.0/deed.en_GB) . |
spellingShingle | Unique/Unexpected Symptoms or Presentations of a Disease Tabasum, A Shute, C Datta, D George, L A man with a worrying potassium deficiency |
title | A man with a worrying potassium deficiency |
title_full | A man with a worrying potassium deficiency |
title_fullStr | A man with a worrying potassium deficiency |
title_full_unstemmed | A man with a worrying potassium deficiency |
title_short | A man with a worrying potassium deficiency |
title_sort | man with a worrying potassium deficiency |
topic | Unique/Unexpected Symptoms or Presentations of a Disease |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965273/ https://www.ncbi.nlm.nih.gov/pubmed/24683481 http://dx.doi.org/10.1530/EDM-13-0067 |
work_keys_str_mv | AT tabasuma amanwithaworryingpotassiumdeficiency AT shutec amanwithaworryingpotassiumdeficiency AT dattad amanwithaworryingpotassiumdeficiency AT georgel amanwithaworryingpotassiumdeficiency AT tabasuma manwithaworryingpotassiumdeficiency AT shutec manwithaworryingpotassiumdeficiency AT dattad manwithaworryingpotassiumdeficiency AT georgel manwithaworryingpotassiumdeficiency |