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Pseudohypoaldosteronism type 2


Other Names for this Disease

  • Chloride shunt syndrome
  • Gordon hyperkalemia-hypertension syndrome
  • Hyperpotassemia and hypertension familial
  • PHA2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Psuedohypoaldosteronism type 2 is an inborn error of metabolism.[1] It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis.[2] It is caused by mutations in the WNK1 or WNK4 gene.[2] Treatment may involve dietary restriction of sodium and hydrochlorothiazide.[3]
Last updated: 12/2/2011

References

  1. Pseudohypoaldosteronism. National Library of Medicine - Medical Subject Headings. 2008; http://www.nlm.nih.gov/cgi/mesh/2008/MB_cgi?mode=&index=11086&view=expanded. Accessed 12/2/2011.
  2. Greenbaum LA. Electrolyte and Acid-Base Disorders. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF eds. Kliegman: Nelson Textbook of Pediatrics, 18th ed. Philadelphia, PA: Saunders; 2007;
  3. Ferry RJ. Pseudohypoaldosteronism. eMedicine. 2010; http://emedicine.medscape.com/article/924100-overview. Accessed 12/2/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Pseudohypoaldosteronism type 2. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • 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 Pseudohypoaldosteronism type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chloride shunt syndrome
  • Gordon hyperkalemia-hypertension syndrome
  • Hyperpotassemia and hypertension familial
  • PHA2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.