Gitelman syndrome

Revision as of 15:32, 9 August 2012 by WikiBot (talk | contribs) (Robot: Automated text replacement (-{{SIB}} + & -{{EH}} + & -{{EJ}} + & -{{Editor Help}} + & -{{Editor Join}} +))
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to: navigation, search
Gitelman syndrome
OMIM 263800
DiseasesDB 31860

WikiDoc Resources for Gitelman syndrome


Most recent articles on Gitelman syndrome

Most cited articles on Gitelman syndrome

Review articles on Gitelman syndrome

Articles on Gitelman syndrome in N Eng J Med, Lancet, BMJ


Powerpoint slides on Gitelman syndrome

Images of Gitelman syndrome

Photos of Gitelman syndrome

Podcasts & MP3s on Gitelman syndrome

Videos on Gitelman syndrome

Evidence Based Medicine

Cochrane Collaboration on Gitelman syndrome

Bandolier on Gitelman syndrome

TRIP on Gitelman syndrome

Clinical Trials

Ongoing Trials on Gitelman syndrome at Clinical

Trial results on Gitelman syndrome

Clinical Trials on Gitelman syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Gitelman syndrome

NICE Guidance on Gitelman syndrome


FDA on Gitelman syndrome

CDC on Gitelman syndrome


Books on Gitelman syndrome


Gitelman syndrome in the news

Be alerted to news on Gitelman syndrome

News trends on Gitelman syndrome


Blogs on Gitelman syndrome


Definitions of Gitelman syndrome

Patient Resources / Community

Patient resources on Gitelman syndrome

Discussion groups on Gitelman syndrome

Patient Handouts on Gitelman syndrome

Directions to Hospitals Treating Gitelman syndrome

Risk calculators and risk factors for Gitelman syndrome

Healthcare Provider Resources

Symptoms of Gitelman syndrome

Causes & Risk Factors for Gitelman syndrome

Diagnostic studies for Gitelman syndrome

Treatment of Gitelman syndrome

Continuing Medical Education (CME)

CME Programs on Gitelman syndrome


Gitelman syndrome en Espanol

Gitelman syndrome en Francais


Gitelman syndrome in the Marketplace

Patents on Gitelman syndrome

Experimental / Informatics

List of terms related to Gitelman syndrome


Gitelman syndrome is a rare inherited defect in the renal tubule of 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'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.


People suffering from Gitelman's syndrome present symptoms which are identical to those of patients who are on thiazide diuretics[1]

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.[2]


It is named for Hillel Gitelman.[3][4]


  1. O'Shaughnessy KM, Karet FE (2004). "Salt handling and hypertension". J. Clin. Invest. 113 (8): 1075–81. doi:10.1172/JCI200421560. PMID 15085183.
  2. Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D (2004). "Bartter's and Gitelman's syndromes: from gene to clinic". Nephron. Physiology. 96 (3): p65–78. doi:10.1159/000076752. PMID 15056980.
  3. synd/2329 at Who Named It
  4. Gitelman HJ, Graham JB, Welt LG (1966). "A new familial disorder characterized by hypokalemia and hypomagnesemia". Trans. Assoc. Am. Physicians. 79: 221–35. PMID 5929460.

External links