Diagnosing and Managing Gitelman Syndrome

Kidneys illustration

Gitelman syndrome is an inherited kidney disease caused by a defect in the kidney’s ability to reabsorb magnesium, sodium, potassium, and chloride (called "electrolyes"). This is due to a mutation in the gene that codes for one of the electrolyte co-transporters in the kidney. The absence of this co-transporter may account for excess loss of magnesium and potassium and inadequate excretion of calcium from the kidneys.

Gitelman syndrome is inherited in an autosomal recessive pattern. Most cases are caused by mutations in the SLC12A3 gene. In a minority of cases, mutations in the CLCNKB gene cause the disorder. However, the disease may occur in someone with no family history of the disorder. It is estimated that Gitelman syndrome occurs in 1 in 40,000 individuals. It affects both males and females of all ethnic backgrounds.

Symptoms of Gitelman Syndrome

Symptoms of Gitelman syndrome usually do not appear before age six. They may include:

  • generalized weakness and fatigue
  • muscle cramping
  • excessive urination or urination at night
  • salt cravings
  • fatigue

In addition, during episodes when symptoms are present, patients may experience abdominal pain, vomiting, diarrhea or constipation, and fever. In fewer cases, seizures may also occur as can a loss of sensation in the face (facial paresthesia). Some adults with the condition will develop chondrocalcinosis, the accumulation of calcium in the joints that causes joints to become swollen, warm to the touch, tender and red.

Diagnosing Gitelman Syndrome

Once other causes of electrolyte abnormalities are ruled out, Gitelman syndrome is usually diagnosed based on physical examination, symptoms, and the results of laboratory blood and urine tests. These include:

  • low level of potassium in the blood
  • low level of magnesium in the blood
  • low level of calcium in the urine

Often, Gitelman syndrome is diagnosed in adolescents or adults when blood tests for something else are done and the results show low potassium levels in the blood. Bartter syndrome is similar to Gitelman syndrome so additional tests may be needed to determine which disorder is present.

Treatments for Patients With Gitelman Syndrome

There is no cure for Gitelman syndrome, and treatment focuses on managing the symptoms. In addition, all patients with Gitelman syndrome, whether they experience symptoms or not, are counseled to help keep the blood potassium, magnesium, sodium, and chloride at normal levels. This is done by having a diet rich in potassium and sodium, and by taking magnesium supplements for the rest of their lives. During severe episodes of muscle spasm, magnesium may be given intravenously.

Some additional medicines are useful in limiting electrolyte losses. These are known as potassium-sparing diuretics such as spironolactone or amiloride. These drugs increase the excretion of water in urine, but retain potassium preventing potassium loss (hypokalemia).

Related Articles


Knoers, Nine, & Elena Levtchenko. "Gitelman Syndrome." Orphanet Journal of Rare Diseases 30 July 2008 22. 3 Apr 2009.

What is Gitelman’s Syndrome?" Articles. 5 Oct 2008. The Bartter Site. 30 Mar 2009.

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