Pseudohypoaldosteronism type I is a rare hereditary disorder in which the kidney tubules retain too much potassium and excrete too much sodium and water, leading to low blood pressure.
(See also Introduction to Disorders of Kidney Tubules.)
There are 2 types of pseudohypoaldosteronism:
Type I, which has 2 subtypes and is characterized by low blood pressure
Type II, which is very rare (not discussed here)
Two different gene mutations can cause pseudohypoaldosteronism type I. In both, the body does not respond to the hormone aldosterone, leading to the excretion of too much sodium and water. However, the 2 types differ. In one type, excess sodium is excreted only by the kidneys. In the other, more severe form, excess salt is also lost through sweat and from other organs.
Children with the severe form may have symptoms similar to those of cystic fibrosis, such as frequent respiratory tract infections. They may have
Dehydration, possibly causing nausea and vomiting
Fatigue
Muscle weakness
Low blood pressure, sometimes with dizziness and fainting
Sodium loss through sweat may cause a rash of very small red bumps.
The less severe form may cause few symptoms other than those of low blood pressure. In the less severe form, the disorder may resolve as children age.
Diagnosis of Pseudohypoaldosteronism Type I
Blood pressure measurement
Blood and urine tests
In addition to measuring blood pressure, doctors measure the amount of sodium and potassium in the urine and blood. They may also do blood tests to detect levels of hormones that help regulate sodium levels in the blood and thus blood pressure (renin and aldosterone).
Genetic testing may also be done.
Treatment of Pseudohypoaldosteronism Type I
Eating a high-salt diet
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): Provides insight into ongoing research, consumer health information in English and Spanish, a blog, and community health and outreach programs.
