Gitelman syndrome

Infobox_Disease
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Caption =
DiseasesDB = 31860
ICD10 = ICD10|N|25|8|n|25 + ICD10|E|87|6|e|70 + ICD10|E|83|4|e|70
ICD9 =
ICDO =
OMIM = 263800
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D053579

Gitelman syndrome is a rare inherited defect in the distal convoluted tubule of the kidneys. It causes the kidneys to pass sodium, magnesium, chloride, and potassium into the urine, rather than allowing it to be resorbed into the bloodstream.

Gitelman syndrome is not to be confused with Bartter syndrome, which is a rare inherited defect in the thick ascending limb of the loop of Henle.

Cause

Gitelman's syndrome is linked to inactivating mutations in the "SLC12A3" gene resulting in a loss of function of the encoded thiazide-sensitive sodium-chloride co-transporter (NCCT). This cell membrane protein participates in the control of ion homeostasis at the distal convoluted tubule portion of the nephron.

Gitelman's syndrome is an autosomal-recessive disorder: one defective gene has to be inherited from each parent.

Presentation

People suffering from Gitelman's syndrome present symptoms which are identical to those of patients who are on thiazide diureticscite journal |author=O'Shaughnessy KM, Karet FE |title=Salt handling and hypertension |journal=J. Clin. Invest. |volume=113 |issue=8 |pages=1075–81 |year=2004 |pmid=15085183 |doi=10.1172/JCI200421560]

Clinical symptoms for this disease are hypochloremic metabolic alkalosis, hypokalemia, and hypocalciuria. Hypomagnesemia is present in many but not all cases. In contrast to patients with Liddle syndrome, those suffering from Gitelman's syndrome are generally normotensive. Carriers of Gitelman's syndrome-linked mutations are often asymptomatic while some complain of mild muscular cramps or weakness expressed as fatigue or irritability. More severe symptoms such as tetany and paralysis have however also been reported. Phenotypic variations observed among patients probably result from differences in their genetic background and may depend on which particular amino acid in the NCCT protein has been mutated.

See Naesens "et al." for a recent review.cite journal |author=Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D |title=Bartter's and Gitelman's syndromes: from gene to clinic |journal=Nephron. Physiology |volume=96 |issue=3 |pages=p65–78 |year=2004 |pmid=15056980 |doi=10.1159/000076752]

Eponym

It is named for Ksenia Gitelman. [WhoNamedIt|synd|2329] cite journal |author=Gitelman HJ, Graham JB, Welt LG |title=A new familial disorder characterized by hypokalemia and hypomagnesemia |journal=Trans. Assoc. Am. Physicians |volume=79 |issue= |pages=221–35 |year=1966 |pmid=5929460 |doi=]

External links

* [http://www.barttersite.org The Bartter Site]

References