Gitelman syndrome
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| Gitelman syndrome Classification and external resources | |
| OMIM | 263800 |
|---|---|
| DiseasesDB | 31860 |
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
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 .
