Abstract
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.
Highlights
Gitelman syndrome (GS) is an autosomal recessive tubulopathy due to mutations in SLC12A3 encoding the thiazide sensitive sodium chloride co-transporter (NCC) in the distal convoluted tubule
Chondrocalcinosis is the deposition of calcium pyrophosphate crystals in the articular cartilages throughout the body and has been associated with the longstanding hypomagnesaemia secondary to GS6
As well as GS, chondrocalcinosis may be seen in association with hyperparathyroidism, haemochromatosis and hypophosphatasia
Summary
Any reports and responses or comments on the article can be found at the end of the article
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
