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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gitelman syndrome


Other Names for this Disease

  • Familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Potassium and magnesium depletion
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Inheritance

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How is Gitelman syndrome inherited?

Gitelman syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Last updated: 10/8/2014


Other Names for this Disease
  • Familial hypokalemia-hypomagnesemia
  • Gitelman's syndrome
  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Potassium and magnesium depletion
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.