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Gitelman syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Gitelman syndrome

Gitelman syndrome is a rare kidney disorder that disrupts the balance of potassium, magnesium, and calcium, leading to muscle cramps, fatigue, and low blood pressure.

Overview

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

Symptoms

The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, salt craving, tingling or prickly sensation in the skin (paresthesias) most often affecting the face, 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. Symptoms vary widely, even among affected members of the same family. Most people have relatively mild symptoms, although severe muscle cramping, paralysis, and slow growth have been reported.

Frequency

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

Causes

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 impair the kidneys' ability to reabsorb salt, leading to salt wasting. Abnormalities of salt transport also affect the reabsorption of other ions, including potassium, magnesium, and calcium. The resulting imbalance of ions underlies the major features of Gitelman syndrome.

Genes Associated with Gitelman Syndrome

  • CLCNKB
  • SLC12A3

Inheritance

This condition is inherited in an , 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.

Other Names for This Condition

  • Familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
  • GS
  • Hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria
  • Tubular hypomagnesemia-hypokalemia with hypocalcuria

Resources

Genetic Testing Information

  • Genetic Testing Registry: Familial hypokalemia-hypomagnesemia

Genetic and Rare Diseases Information Center

  • Gitelman syndrome

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

  • GITELMAN SYNDROME; GTLMNS

Scientific Articles on PubMed

  • PubMed

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. doi: 10.1046/j.1523-1755.2001.059002710.x. Citation on PubMed
  • Enriquez R, Adam V, Sirvent AE, Garcia-Garcia AB, Millan I, Amoros 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. Citation on PubMed
  • 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. doi: 10.1203/00006450-200012000-00009. Citation on PubMed
  • Knoers NV, Levtchenko EN. Gitelman syndrome. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Citation on PubMed or Free article on PubMed Central
  • Knoers NV. Gitelman syndrome. Adv Chronic Kidney Dis. 2006 Apr;13(2):148-54. doi: 10.1053/j.ackd.2006.01.014. Citation on PubMed
  • Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O. Gitelman's syndrome: towards genotype-phenotype correlations? Pediatr Nephrol. 2007 Mar;22(3):326-32. doi:10.1007/s00467-006-0321-1. Epub 2006 Oct 24. Citation on PubMed

MedlinePlus Links

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MedlinePlus Resources

  • Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. Learn more

Medical Encyclopedia

  • Genetics

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

Frequently Asked Questions

Potassium chloride is usually given in divided doses of 2–4 g per day, split into 2–4 tablets taken with meals to reduce gastrointestinal upset. Magnesium is often prescribed as magnesium oxide or citrate, with typical doses ranging from 400–800 mg elemental magnesium per day, also divided. Calcium supplementation may be added at 1–2 g/day if serum calcium is low. Regular monitoring of serum electrolytes every 4–6 weeks during dose adjustments is essential to avoid hyperkalemia or hypermagnesemia.
Increasing dietary salt intake (about 3–5 g of sodium chloride per day) can help maintain blood pressure and reduce cramps. Avoiding diuretics, especially loop and thiazide diuretics, is important because they worsen electrolyte loss. Moderate, regular exercise improves muscle strength without triggering severe cramps, but high‑intensity or prolonged activity should be approached cautiously. Staying well hydrated and avoiding excessive sweating can also mitigate symptom severity.
Yes, low potassium and magnesium can predispose to ventricular arrhythmias. Patients should undergo periodic ECGs, and a 24‑hour Holter monitor may be indicated if symptoms such as palpitations or syncope occur. Treatment involves aggressive correction of electrolytes, avoidance of QT‑prolonging drugs, and in some cases beta‑blockers or antiarrhythmic therapy if arrhythmias persist.
Early symptoms such as persistent muscle cramps or tetany, especially in the legs or hands, unexplained low blood pressure, salt craving, tingling or prickling sensations in the face or extremities, and fatigue that improves with salt intake should raise suspicion. If these signs appear in adolescence or early adulthood and routine electrolyte panels show low potassium and magnesium with normal or low calcium, a specialist may order a renal tubular function test or genetic analysis.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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