Gitelman syndrome

	WikiDoc Resources for Gitelman syndrome
Articles
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
Media
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 Trials.gov 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 NHS PRODIGY Guidance FDA on Gitelman syndrome CDC on Gitelman syndrome
Books
Books on Gitelman syndrome
News
Gitelman syndrome in the news Be alerted to news on Gitelman syndrome News trends on Gitelman syndrome
Commentary
Blogs on Gitelman syndrome
Definitions
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
International
Gitelman syndrome en Espanol Gitelman syndrome en Francais
Business
Gitelman syndrome in the Marketplace Patents on Gitelman syndrome
Experimental / Informatics
List of terms related to Gitelman syndrome

	Gitelman syndrome;
OMIM	263800
DiseasesDB	31860

Overview[edit | edit source]

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.

Causes[edit | edit source]

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[edit | edit source]

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]

Eponym[edit | edit source]

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

References[edit | edit source]

↑ O'Shaughnessy KM, Karet FE (2004). "Salt handling and hypertension". J. Clin. Invest. 113 (8): 1075–81. doi:10.1172/JCI200421560. PMID 15085183.
↑ 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.
↑ Template:WhoNamedIt
↑ 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[edit | edit source]

The Bartter Site

Template:WH Template:WikiDoc Sources

[pmid15085183-1] O'Shaughnessy KM, Karet FE (2004). "Salt handling and hypertension". J. Clin. Invest. 113 (8): 1075–81. doi:10.1172/JCI200421560. PMID 15085183.

[pmid15056980-2] 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] Template:WhoNamedIt

[pmid5929460-4] 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.

[1]

[2]

[3]

[4]