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Genetic and Rare Diseases Information Center (GARD)

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Liddle syndrome


Other Names for this Disease

  • Liddle's syndrome
  • Pseudoaldosteronism
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Overview

Liddle syndrome is a rare, inherited form of high blood pressure (hypertension).[1] The condition is characterized by severe, early-onset hypertension associated with decreased levels of potassium, renin and aldosterone in blood plasma. Children usually have no symptoms; adults can present with symptoms of low potassium levels (hypokalemia) such as weakness, fatigue, muscle pain (myalgia), constipation or palpitations. It is caused by mutations in either the SCNN1B or SCNN1G genes and is inherited in an autosomal dominant manner. Treatment may include a low sodium diet and potassium-sparing diuretics to reduce blood pressure and normalize potassium levels. Conventional anti-hypertensive therapies are not effective.[1]
Last updated: 9/21/2012

References

  1. Rosa Vargas-Poussou. Liddle syndrome. Orphanet. August 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=526. Accessed 9/21/2012.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Liddle syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Liddle's syndrome
  • Pseudoaldosteronism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.