Cargando…

Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome

Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman s...

Descripción completa

Detalles Bibliográficos
Autores principales: Iqbal, Zahra, Mead, Paul, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897758/
https://www.ncbi.nlm.nih.gov/pubmed/27303630
http://dx.doi.org/10.12688/f1000research.8732.1
_version_ 1782436230543179776
author Iqbal, Zahra
Mead, Paul
Sayer, John A.
author_facet Iqbal, Zahra
Mead, Paul
Sayer, John A.
author_sort Iqbal, Zahra
collection PubMed
description Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lead to chondrocalcinosis, which often affects knees but can affect other joints. Here we present a case of Gitelman syndrome complicated by cervical chondrocalcinosis leading to neck pain and numbness of the fingers. Treatments directed at correcting both hypokalaemia and hypomagnesaemia were initiated and allowed conservative non-surgical management of the neck pain. Recognition of chondrocalcinosis is important and treatments must be individualised to correct the underlying hypomagnesaemia.
format Online
Article
Text
id pubmed-4897758
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher F1000Research
record_format MEDLINE/PubMed
spelling pubmed-48977582016-06-13 Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome Iqbal, Zahra Mead, Paul Sayer, John A. F1000Res Case Report Gitelman syndrome is an inherited tubulopathy leading to a hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. Most cases are due to mutations in SLC12A3, encoding the apical thiazide sensitive co-transporter in the distal convoluted tubule. Musculoskeletal effects of Gitelman syndrome are common, including muscle weakness, tetany and cramps. Chronic hypomagnesaemia can lead to chondrocalcinosis, which often affects knees but can affect other joints. Here we present a case of Gitelman syndrome complicated by cervical chondrocalcinosis leading to neck pain and numbness of the fingers. Treatments directed at correcting both hypokalaemia and hypomagnesaemia were initiated and allowed conservative non-surgical management of the neck pain. Recognition of chondrocalcinosis is important and treatments must be individualised to correct the underlying hypomagnesaemia. F1000Research 2016-05-12 /pmc/articles/PMC4897758/ /pubmed/27303630 http://dx.doi.org/10.12688/f1000research.8732.1 Text en Copyright: © 2016 Iqbal Z et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Iqbal, Zahra
Mead, Paul
Sayer, John A.
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome
title Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome
title_full Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome
title_fullStr Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome
title_full_unstemmed Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome
title_short Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome
title_sort case report: cervical chondrocalcinosis as a complication of gitelman syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897758/
https://www.ncbi.nlm.nih.gov/pubmed/27303630
http://dx.doi.org/10.12688/f1000research.8732.1
work_keys_str_mv AT iqbalzahra casereportcervicalchondrocalcinosisasacomplicationofgitelmansyndrome
AT meadpaul casereportcervicalchondrocalcinosisasacomplicationofgitelmansyndrome
AT sayerjohna casereportcervicalchondrocalcinosisasacomplicationofgitelmansyndrome