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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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Your Question

I understand Gitelman disease is autosomal recessive. Will any children have the disease if one parent has the disease and the other parent does not have it and is not even a carrier?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Can a child be affected if one parent is affected and the other parent is not affected and not a carrier?

Gitelman syndrome is inherited in an autosomal recessive manner, which means that affected individuals have mutations in both copies of the disease-causing gene. In almost all cases, one mutated copy is inherited from each parent, who are referred to as carriers. Affected individuals have 2 mutated copies of the disease-causing gene. When an affected individual and an unaffected, non-carrier (with two normal copies) have children, each child has a 100% chance of being a carrier for the condition (i.e. each child will have one mutated copy and one normal copy of the gene). This is because the affected parent can only pass on a mutated copy of the gene, and the unaffected, non-carrier parent can only pass on a normal copy of the gene. It is technically possible (although extremely unlikely) for a child to have an autosomal recessive condition due to inheriting one mutation from a parent and having another, new mutation (called a de novo mutation) that occurred for the first time in the affected child.
Last updated: 11/25/2011