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.

Farlex Partner Medical Dictionary © Farlex 2012

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.

Bartter Syndrome Treatment Market Forecast Covering Growth Inclinations & Development Strategies unt

However, in 2010 the wife was diagnosed with Gitelman syndrome, making a pregnancy life-threatening for her.

Posthumous conception: Recent legal developments in South Africa

In the setting of these findings and normal blood pressure, a diagnosis of Gitelman syndrome was made.

Magnesium disorders can cause calcium pyrophosphate deposition disease: A case report and literature review

also reported a patient with a genetic combination of Gitelman syndrome and autosomal dominant diabetes insipidus [12].

Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus

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

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).

A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

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.

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.

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).

A rare case of hypokalemia and hypomagnesemia

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

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.

Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications

Diuretic abuse can also be very similar to Gitelman syndrome. Therefore, the urine assay for diuretics is of great importance in these patients.