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Genetic and Rare Diseases Information Center (GARD)

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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.

Your Question

My friend is 48-years-old and has had hypertension for more than 15 years. Her potassium levels are always elevated and her doctors do not know why. Her serum creatinin is normal. Do you think she has pseudohypoaldosteronism type II?

Our Answer

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

What is pseudohypoaldosteronism type 2?

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

What are the symptoms of pseudohypoaldosteronism type 2?

The most common symptom of pseudohypoaldosteronism type 2 is high blood pressure in adolescents or young adults.[3] In its most severe form, it is associated with muscle weakness, short stature, and intellectual impairment.[4]
Last updated: 12/2/2011

What causes pseudohypoaldosteronism type 2?

Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes.[2][4][5] Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis.[2]
Last updated: 12/2/2011

How is pseudohypoaldosteronism type 2 diagnosed?

Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.[4]
Last updated: 12/2/2011

How might pseudohypoaldosteronism type 2 be treated?

Pseudohypoaldosteronism may be treated with thiazide diuretics[4][5] and dietary restriction of sodium.[3]
Last updated: 12/2/2011

Who can my friend speak to if she feels she may have pseudohypoaldosteronism type 2?

If your friend feels she may have pseudohypoaldosteronism, we recommend that she speak with her health care provider. She may also find it helpful to meet with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic in her area, we recommend that she contact her primary doctor for a referral. 

The following online resources can help your friend find a genetics professional in her community:  

Last updated: 12/2/2011

Can you tell me if my friend has Pseudohypoaldosteronism type 2?

No. The Genetic and Rare Diseases Information Center was established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD) at the National Institutes of Health to provide assistance in finding information resources and supportive resources specific to diagnosed genetic and rare diseases. We cannot provide you with diagnoses. We recommend that your friend speak with a health care provider.
Last updated: 12/2/2011

References
  • 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.
  • 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;
  • Ferry RJ. Pseudohypoaldosteronism. eMedicine. 2010; http://emedicine.medscape.com/article/924100-overview. Accessed 12/2/2011.
  • Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Brenner BM ed. Brenner: Brenner and Rector's The Kidney, 8th ed.. Philadelphia, PA: Saunders; 2008;
  • Victor RG. Arterial hypertension . In: Goldman L, Ausiello D eds. Goldman: Cecil Medicine, 23rd ed. Philadelphia, PA: Saunders; 2007;
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.