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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gitelman syndrome


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

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How is Gitelman syndrome inherited?

Gitelman syndrome is inherited in an autosomal recessive manner.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 7/11/2016

References
  1. Gitelman Syndrome. NORD. 2015; http://rarediseases.org/rare-diseases/gitelman-syndrome/.


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