MedGen

Gitelman syndrome (GTLMNS) 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 present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. [from OMIM]

Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. [from HPO]

Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods. [from HPO]

An abnormally decreased calcium concentration in the urine. [from HPO]