Gitelman syndrome

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Gitelman syndrome Classification and external resources
OMIM	263800
DiseasesDB	31860

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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

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 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.^[1]

Eponym

It is named for Hillel Gitelman.^[1][1]

References

External links

• The Bartter Site

v • d • e WikiDoc Research Resources for Gitelman syndrome
Articles on 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
Media (Slides, Video, Images, MP3) on Gitelman syndrome	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 Regarding Gitelman syndrome	Cochrane Collaboration on Gitelman syndrome • Bandolier on Gitelman syndrome • TRIP on Gitelman syndrome
Cost Effectiveness of Gitelman syndrome	Cost Effectiveness of Gitelman syndrome
Clinical Trials Involving Gitelman syndrome	Ongoing Trials on Gitelman syndrome at Clinical Trials.gov • Trial results on Gitelman syndrome • Clinical Trials on Gitelman syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Gitelman syndrome	US National Guidelines Clearinghouse on Gitelman syndrome • NICE Guidance on Gitelman syndrome • NHS PRODIGY Guidance • FDA on Gitelman syndrome • CDC on Gitelman syndrome
Textbook Information on Gitelman syndrome	Books and Textbook Information on Gitelman syndrome
Pharmacology Resources on Gitelman syndrome	Dosing of Gitelman syndrome • Drug interactions with Gitelman syndrome • Side effects of Gitelman syndrome • Allergic reactions to Gitelman syndrome • Overdose information on Gitelman syndrome • Carcinogenicity information on Gitelman syndrome • Gitelman syndrome in pregnancy • Pharmacokinetics of Gitelman syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Gitelman syndrome	Genetics of Gitelman syndrome • Pharmacogenomics of Gitelman syndrome • Proteomics of Gitelman syndrome
Newstories on Gitelman syndrome	Gitelman syndrome in the news • Be alerted to news on Gitelman syndrome • News trends on Gitelman syndrome
Commentary on Gitelman syndrome	Blogs on Gitelman syndrome
Patient Resources on Gitelman syndrome	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 on Gitelman syndrome	Symptoms of Gitelman syndrome • Causes & Risk Factors for Gitelman syndrome • Diagnostic studies for Gitelman syndrome • Treatment of Gitelman syndrome
Continuing Medical Education (CME) Programs on Gitelman syndrome	CME Programs on Gitelman syndrome
International Resources on Gitelman syndrome	Gitelman syndrome en Espanol • Gitelman syndrome en Francais
Business Resources on Gitelman syndrome	Gitelman syndrome in the Marketplace • Patents on Gitelman syndrome
Informatics Resources on Gitelman syndrome	List of terms related to Gitelman syndrome

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .