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 ?
On the basis of the underlying gene mutation, Bartter syndrome can be classified as Bartter syndrome type 1, type 2, type 3, type 4a and 4b and Gitelman syndrome. Presently, according to the National Organization for Rare Disorders (NORD), Bartter syndrome is classified under a new classification system, which is based upon the specific part of the kidney affected.
However, in 2010 the wife was diagnosed with Gitelman syndrome, making a pregnancy life-threatening for her.
In the setting of these findings and normal blood pressure, a diagnosis of Gitelman syndrome was made.
also reported a patient with a genetic combination of Gitelman syndrome and autosomal dominant diabetes insipidus [12].
The various causes of hypoKPP include thyrotoxicosis, use of diuretics, distal RTA (dRTA)(6%), Gitelman syndrome, liquorice consumption, and primary hyperaldosteronism (2,3).
Gitelman syndrome (GS), an autosomal recessive inherited disease (OMIM 263800) first reported by Gitelman in 1966, manifests mainly as hypokalemia, hypomagnesemia and hypocalciuria (1-5).
Antenatal diagnosis can be established by finding raised levels of chloride and aldosterone in amniotic fluid.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.
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).
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.
The most frequent causes of SAL in the paediatric age group are the salt-losing tubulopathies (e.g., Bartter syndrome, Gitelman syndrome), autosomal recessive conditions characterised by the loss of [Na.sup.+] from the distal nephron with consequent RAS activation and persistent SAL.
Diuretic abuse can also be very similar to Gitelman syndrome. Therefore, the urine assay for diuretics is of great importance in these patients.