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 ?

The various causes of hypoKPP include thyrotoxicosis, use of diuretics, distal RTA (dRTA)(6%), Gitelman syndrome, liquorice consumption, and primary hyperaldosteronism (2,3).

Recurrent Hypokalemia leading to Flaccid Quadriparesis: A Renal or Connective Tissue Disorder

5 Hypercalciuria is an important distinguishing marker between Bartter's and Gitelman syndrome.

Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination

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.

Clinical Analysis of a Hypokalemic Salt-losing Tubulopathy Case

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.

A rare case of hypokalemia and hypomagnesemia

Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of gitelman syndrome," Journal of the American Society of Nephrology, vol.

Hyperemesis gravidarum in undiagnosed Gitelman's syndrome

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.

Canoe grans cheered at 60-mile finish line

Diuretic abuse can also be very similar to Gitelman syndrome.

Hypokalaemia in a woman with eating disorder

Dose related growth response to indometacin in Gitelman syndrome.

Sindromes de Bartter y Gitelman: revision de los aspectos geneticos, fisiopatologicos y clinicos

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.

Canoe believe it? Grans take on a 60-mile paddle!

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.