Gitelman syndrome

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Gitelman syndrome is a rare, inherited renal disorder characterized by low levels of potassium and magnesium in the blood, increased levels of calcium in the urine, and certain other abnormalities. It is named after Hillel J. Gitelman, the American nephrologist who first described it in 1966.

Pronunciation

Gitelman syndrome is pronounced as "GIT-el-man SIN-drome".

Etymology

The syndrome is named after Hillel J. Gitelman, an American nephrologist who first described the condition in 1966.

Symptoms

The symptoms of Gitelman syndrome can vary greatly from person to person, and may include fatigue, muscle weakness, and spasms, among others. Some individuals may have no symptoms at all.

Causes

Gitelman syndrome is caused by mutations in the SLC12A3 gene, which provides instructions for making a protein that is critical for normal kidney function.

Diagnosis

Diagnosis of Gitelman syndrome is based on the results of blood and urine tests, which can reveal the characteristic abnormalities associated with the condition.

Treatment

Treatment for Gitelman syndrome typically involves taking supplements to replace the lost potassium and magnesium, and may also include medications to help manage symptoms.

Related Terms

  • Bartter syndrome: A similar but distinct renal disorder that is often confused with Gitelman syndrome.
  • Hypokalemia: A condition characterized by low levels of potassium in the blood, a common feature of Gitelman syndrome.
  • Hypomagnesemia: A condition characterized by low levels of magnesium in the blood, another common feature of Gitelman syndrome.

External links

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