Familial hypokalemia-hypomagnesemia

Common Name(s)

Familial hypokalemia-hypomagnesemia

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by {7:Glaudemans et al., 2012)}. For a complete description of Bartter syndrome and a discussion of related disorders, see {607364}. See also pseudoaldosteronism ({177200}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial hypokalemia-hypomagnesemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Translational Approach to Gitelman Syndrome
 

Status: Not yet recruiting

Condition Summary: Gitelman Syndrome

 

Last Updated: 13 Jan 2009

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Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
 

Status: Recruiting

Condition Summary: Heterozygous Carriers of Gitelman Syndrome

 

Last Updated: 10 Jan 2014

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