Introduction: Gitelman syndrome (GS), also called hypokalemia-hypomagnesemia, is a rare renal disorder affecting the renal tubules. 1 This disease was first described in 1966 by Hillel Gitelman and his colleagues. Gitelman syndrome is often confused with Bartter syndrome— another form of salt-wasting tubulopathy, due to similarities in the presentation. 2 Patients with GS often suffer from cramps, tetany, muscle weakness and periods of salt craving.
Individuals with an extreme form of GS can have an extreme electrolyte imbalance, which can cause arrhythmias, occasionally leading to sudden cardiac arrest. Genetics Autosomal recessive disease Mutations affecting the SLC12A3 gene, which encodes the sodium chloride cotransporter NCCT and the TRPM6 gene — affect magnesium transport in the distal tubules. Epidemiology Global — 1 in 40,000 people 2 India — 1 in 12,000 people 3…
