GTR Home > Conditions/Phenotypes > Familial hypokalemia-hypomagnesemia


Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). For a complete description of Bartter syndrome and a discussion of related disorders, see 607364. See also pseudoaldosteronism (177200). [from OMIM]

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