Lookup NU author(s): Professor John Sayer
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© 2016 Iqbal Z et al. 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.
Author(s): Iqbal Z, Mead P, Sayer JA
Publication type: Article
Publication status: Published
Online publication date: 12/05/2016
Acceptance date: 02/04/2016
Date deposited: 11/04/2017
ISSN (print): 2046-1402
ISSN (electronic): 1759-796X
Publisher: Faculty of 1000 Ltd
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