Pseudohypoaldosteronism type 2

What causes pseudohypoaldosteronism type 2?

Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. 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.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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 on 05-01-20

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 on 05-01-20

What is pseudohypoaldosteronism type 2?

Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide.

Last updated on 05-01-20

How might pseudohypoaldosteronism type 2 be treated?

Pseudohypoaldosteronism may be treated with thiazide diuretics and dietary restriction of sodium.

Last updated on 05-01-20

Patient Registry

RDCRN - The Genetic Diseases of Mucociliary Clearance Consortium Pt Registry

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) has created a patient registry for individuals that have rare airway diseases. You can learn more about the patient registry by clicking on the GDMCC link.

Last updated on 04-27-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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