Gitelman syndrome


Also found in: Wikipedia.

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 ?
The various causes of hypoKPP include thyrotoxicosis, use of diuretics, distal RTA (dRTA)(6%), Gitelman syndrome, liquorice consumption, and primary hyperaldosteronism (2,3).
5 Hypercalciuria is an important distinguishing marker between Bartter's and Gitelman syndrome.
Below is the report of genotyping and diagnosis of a case of secondary Gitelman syndrome (GS) based on next-generation sequencing.
Understanding Bartter syndrome and Gitelman syndrome.
The use of diuretics and vomiting (postemetic bicarbonaturia forces urinary potassium excretion, and the decrease in extracellular fluid increases aldosterone secretion) were excluded, so the remaining options were hypomagnesemia or genetic channelopathies, such as Bartter syndrome (BS) or Gitelman syndrome (GS).
In hypokalemic patients with excessive renal potassium excretion, rare genetic tubulopathies, such as Gitelman syndrome and Bartter syndrome, should be considered.
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of gitelman syndrome," Journal of the American Society of Nephrology, vol.
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.
Diuretic abuse can also be very similar to Gitelman syndrome.
Dose related growth response to indometacin in Gitelman syndrome.
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.
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.