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.
References in periodicals archive ?
They paddled from Nuneaton to Northampton to highlight a rare condition, Gitelman Syndrome, which claimed the life of Julia's 28-year-old daughter Alyson nine years ago.
Earlier this year, Julia came up with the idea of a sponsored canal trip - from Alyson's home town to where she had gone to live and work - as a way of raising funds towards the award and also increasing awareness about Gitelman Syndrome.
Gitelman syndrome is an autosomal recessive channelopathy of the Na-Cl transporter in the distal collecting tubule that can mimic hyperaldosteronism and may present later in life.
Julia's daughter Alyson died in 2005 at the age of 28 from Gitelman Syndrome, which she had originally been told was non-life-threatening.