Gitelman syndrome

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Gitelman syndrome

(git'ĕl-mŏn),
a disorder seen in older children and young adults characterized by hypokalemia, hypomagnesemia, hypocalciuria, and sometimes tetany.

Gitelman syndrome

A clinically variable autosomal recessive disorder (OMIM:263800) characterised by hypomagnesaemia and hypocalciuria (its key features), hypokalemic alkalosis, and increased renin activity with normal blood pressure. Patients may be asymptomatic or have episodic muscular weakness and tetany, often accompanied by abdominal pain, vomiting and fever. It has overlapping features with Bartter syndrome.

Molecular pathology
Defects in SLC12A3, which encodes a sodium-chloride co-transporter important for maintaining electrolyte homeostasis, cause Gitelman syndrome.

Gitelman syndrome

(git′ĕl-măn)
[Hillel J. Gitelman, U.S. nephrologist]
A rare autosomal recessive renal tubular disorder characterized by hypokalemia, magnesium deficiency, and metabolic alkalosis.