About Gitelman Syndrome
Gitelman syndrome is an autosomal recessive disorder caused by loss-of-function mutations in SLC12A3 encoding the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule, resulting in salt wasting, hypokalaemia, hypomagnesaemia, and metabolic alkalosis. Unlike Bartter syndrome, Gitelman syndrome typically presents in older children or adults with milder symptoms including muscle weakness, fatigue, salt craving, and tetany. Renal function is usually preserved, and the condition is often diagnosed incidentally on routine electrolyte testing.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Gitelman Syndrome trials.
SLC12A3 biallelic mutation confirmation is the gold standard for diagnosis; clinical biochemistry alone (hypokalaemia, hypomagnesaemia, hypocalciuria) supports but does not confirm eligibility for genetic trials.
Baseline electrolyte levels on current supplementation must be characterised; some trials require a defined wash-out period from potassium or magnesium supplements before screening.
Chondrocalcinosis assessment may be required for trials evaluating long-term hypomagnesaemia complications; include joint imaging if clinically indicated.
Patient Resources
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