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Gitelman Syndrome

A hereditary tubulopathy characterized by hypomagnesemia and hypokalemia due to dysfunction of the thiazide-sensitive NaCl cotransporter in the distal tubule.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Gitelman Syndrome?

Gitelman syndrome is an autosomal recessive disease caused by mutation of the thiazide-sensitive NaCl cotransporter gene (SLC12A3) in the distal convoluted tubule. It has a milder clinical course compared to Bartter syndrome and is usually recognized in adolescence or adulthood.

Clinically, muscle weakness, cramps, fatigue, tetany attacks, paresthesia, and arrhythmias may be seen. Some cases are asymptomatic or mildly symptomatic. Laboratory findings include hypokalemia, hypomagnesemia, hypochloremic metabolic alkalosis, and hypocalciuria.

Treatment includes oral potassium and magnesium supplementation, high salt intake, and spironolactone may be added based on symptoms. Prognosis is better than Bartter syndrome and quality of life can be well preserved with appropriate treatment.

Symptoms

Muscle weakness and cramps
Fatigue and weakness
Tetany
Paresthesia
Palpitations and arrhythmia
Constipation
Some cases asymptomatic

Risk Factors

Consanguineous marriage
Family history
Autosomal recessive inheritance
Worsening after abdominal surgery (stress)
More frequent diagnosis in girls
Adolescent-adult onset

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • In unexplained muscle weakness and cramps
  • When hypokalemia and hypomagnesemia are detected
  • In tetany attacks
  • For screening in the presence of family history
  • When fatigue and weakness persist

Treatment Methods

01
Oral potassium and magnesium replacement
02
High salt diet
03
Spironolactone or amiloride
04
Electrolyte monitoring
05
ECG monitoring (arrhythmia risk)
06
Genetic testing (SLC12A3) and family screening

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.