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Genetics Home Reference: your guide to understanding genetic conditions
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Gitelman syndrome

Reviewed February 2011

What is 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.

The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paresthesias), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

The signs and symptoms of Gitelman syndrome vary widely, even among affected members of the same family. Most people with this condition have relatively mild symptoms, although affected individuals with severe muscle cramping, paralysis, and slow growth have been reported.

How common is Gitelman syndrome?

Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.

What genes are related to Gitelman syndrome?

Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.

Related Gene(s)

Changes in these genes are associated with Gitelman syndrome.

  • CLCNKB
  • SLC12A3

How do people inherit Gitelman syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Gitelman syndrome?

These resources address the diagnosis or management of Gitelman syndrome and may include treatment providers.

  • Genetic Testing Registry: Familial hypokalemia-hypomagnesemia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268450)

You might also find information on the diagnosis or management of Gitelman syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/gitelman-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/gitelman-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Gitelman syndrome?

You may find the following resources about Gitelman syndrome helpful. These materials are written for the general public.

  • MedlinePlus - Health information
    Health Topic: Kidney Diseases (http://www.nlm.nih.gov/medlineplus/kidneydiseases.html)
  • Genetic and Rare Diseases Information Center - Information about genetic conditions and rare diseases (http://rarediseases.info.nih.gov/gard/8547/resources/resources/1)
  • Additional NIH Resources - National Institutes of Health
    National Institute of Diabetes and Digestive and Kidney Diseases: The Kidneys and How They Work (http://kidney.niddk.nih.gov/Kudiseases/pubs/yourkidneys/)

  • Educational resources - Information pages

    • Merck Manual for Healthcare Providers (http://www.merckmanuals.com/professional/pediatrics/congenital_renal_transport_abnormalities/bartter_syndrome_and_gitelmans_syndrome.html)
    • Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=358)

  • Patient support - For patients and families

    • Family Village: Kidney Disorders (http://www.familyvillage.wisc.edu/lib_kidn.htm)
    • National Kidney Foundation (http://www.kidney.org/)
    • Resource list from the University of Kansas Medical Center: Kidney/Urologic Conditions (http://www.kumc.edu/gec/support/kidney.html)
    • The Bartter Site (http://barttersite.org/category/gitelmansyndrome/)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Genetic Testing Registry - Repository of genetic test information

    • Genetic Testing Registry: Familial hypokalemia-hypomagnesemia (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0268450)
  • ClinicalTrials.gov - Linking patients to medical research (http://clinicaltrials.gov/ct2/results?cond=%22Gitelman%20syndrome%22)
  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(Gitelman%20Syndrome%5BMAJR%5D)%20AND%20(Gitelman*%5BTIAB%5D)%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/263800)

What other names do people use for Gitelman syndrome?

  • familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
  • GS
  • hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria
  • tubular hypomagnesemia-hypokalemia with hypocalcuria

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Gitelman syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Gitelman syndrome?

arrhythmia ; autosomal ; autosomal recessive ; calcium ; cell ; chloride ; distal ; familial ; gene ; hypokalemia ; ions ; joint ; kidney ; NaCl ; potassium ; recessive ; sodium ; sodium chloride ; syndrome ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/11168953?dopt=Abstract)
  • Enríquez R, Adam V, Sirvent AE, García-García AB, Millán I, Amorós F. Gitelman syndrome due to p.A204T mutation in CLCNKB gene. Int Urol Nephrol. 2010 Dec;42(4):1099-102. doi: 10.1007/s11255-010-9850-4. Epub 2010 Oct 8. (http://www.ncbi.nlm.nih.gov/pubmed/20931281?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/11102542?dopt=Abstract)
  • Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18667063?dopt=Abstract)
  • Knoers NV. Gitelman syndrome. Adv Chronic Kidney Dis. 2006 Apr;13(2):148-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16580616?dopt=Abstract)
  • Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Gitelman's syndrome: towards genotype-phenotype correlations? Pediatr Nephrol. 2007 Mar;22(3):326-32. Epub 2006 Oct 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17061123?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2011
Published: May 20, 2013