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Xu, C. Gitelman Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4007 (accessed on 26 September 2026).
Xu C. Gitelman Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4007. Accessed September 26, 2026.
Xu, Camila. "Gitelman Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4007 (accessed September 26, 2026).
Xu, C. (2020, December 23). Gitelman Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4007
Xu, Camila. "Gitelman Syndrome." Encyclopedia. Web. 23 December, 2020.
Gitelman Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gitelman-syndrome

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

genetic conditions

References

  1. Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB; Yale Gitelman's and Bartter's Syndrome Collaborative Study Group. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int. 2001 Feb;59(2):710-7.
  2. Enríquez R, Adam V, Sirvent AE, García-García AB, Millán I, Amorós F. Gitelmansyndrome due to p.A204T mutation in CLCNKB gene. Int Urol Nephrol. 2010Dec;42(4):1099-102. doi: 10.1007/s11255-010-9850-4.
  3. Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.Pediatr Res. 2000 Dec;48(6):754-8.
  4. Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul30;3:22. doi: 10.1186/1750-1172-3-22. Review.
  5. Knoers NV. Gitelman syndrome. Adv Chronic Kidney Dis. 2006 Apr;13(2):148-54.Review.
  6. Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Gitelman's syndrome: towards genotype-phenotype correlations? Pediatr Nephrol. 2007 Mar;22(3):326-32.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 956
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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