Gitelman Syndrome

Gitelman syndrome is an inherited kidney disease. Gitelman syndrome is 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 cotransporters in the kidney. The absence of this cotransporter 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, although sometimes it 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

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

Diagnosis

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.

Treatment

Treatment of Gitelman syndrome focuses on keeping 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. Some additional medicines are useful in limiting electrolyte losses.

_Sources:

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.