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The challenges of diagnosis and management of Gitelman syndrome

Lookup NU author(s): Dr Stephanie Urwin, Dr Jamie Willows, Professor John Sayer

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Abstract

© 2019 John Wiley & Sons Ltd. Gitelman syndrome is an inherited tubulopathy characterized by renal salt wasting from the distal convoluted tubule. Defects in the sodium chloride cotransporter (encoded by SLC12A3) underlie this autosomal recessive condition. This article focuses on the specific challenges of diagnosing and treating Gitelman syndrome, with use of an illustrative case report. Symptoms relate to decreased serum potassium and magnesium levels, which include muscle weakness, tetany, fatigue and palpitations. Sudden cardiac deaths have been reported. Making a diagnosis may be difficult given its rarity but is important. A knowledge of the serum and urine biochemical picture is vital to distinguish it from a broad differential diagnosis, and application of genetic testing can resolve difficult cases. There is a group of Gitelman syndrome heterozygous carriers that experience symptoms and electrolyte disturbance and these patients should be managed in a similar way, though here genetic investigations become key in securing a difficult diagnosis. Potassium and magnesium replacement is the cornerstone of treatment, though practically this can be hard for patients to manage and often does not fully relieve symptoms even when serum levels are normalized. Challenges arise due to the lack of randomized controlled trials focussing on treatment of this rare disease; hence, clinicians endorse strategies in line with correction of the underlying pathophysiology such as sodium loading or pharmacological treatments, which seem to help some patients. Focussed dietary advice and knowing the best tolerated preparations of potassium and magnesium medications are useful tools for the physician, as well as an awareness of the specific burdens that this patient group face in order to signpost appropriate support.


Publication metadata

Author(s): Urwin S, Willows J, Sayer JA

Publication type: Review

Publication status: Published

Journal: Clinical Endocrinology

Year: 2020

Volume: 92

Issue: 1

Pages: 3-10

Print publication date: 01/01/2020

Online publication date: 02/10/2019

Acceptance date: 18/09/2019

ISSN (print): 0300-0664

ISSN (electronic): 1365-2265

Publisher: NLM (Medline)

URL: https://doi.org/10.1111/cen.14104

DOI: 10.1111/cen.14104

PubMed id: 31578736


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