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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Gitelman syndrome


Other Names for this Disease
  • Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria
  • Potassium and magnesium depletion
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Overview



What is Gitelman syndrome?

How is Gitelman syndrome inherited?


What is Gitelman syndrome?

Gitelman syndrome is a kidney condition that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. Signs and symptoms usually appear in late childhood or adolescence and vary widely. Most affected individuals have relatively mild symptoms. Common symptoms include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, salt craving, and tingling or prickly sensations in the skin on the face (paresthesias). Some experience fatigue, low blood pressure, and a painful joint condition called chondrocalcinosis. It is caused by mutations in the SLC12A3 or CLCNKB genes and is inherited in an autosomal recessive manner.[1]
Last updated: 11/25/2011

How is Gitelman syndrome inherited?

Gitelman syndrome is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the disease-causing gene in each cell have a mutation. The parents of an affected individual each carry one mutated copy of the disease-causing 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: 11/25/2011

References
  1. Gitelman syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/gitelman-syndrome. Accessed 10/10/2011.