What is PHA type 1?

Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys.

How common is pseudohypoaldosteronism type 1?

The overall prevalence at birth in the United Kingdom is estimated at 1/47,000, with prevalence at birth for renal pseudohypoaldosteronism type 1 (renal PHA1) and generalized pseudohypoaldosteronism type 1 (generalized PHA1), estimated at of 1/66,000 and 1/166,000, respectively.

What causes Pseudohypoaldosteronism?

Inheritance. This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent .

What is Pseudohyperaldosteronism?

Pseudohyperaldosteronism (also pseudoaldosteronism) is a medical condition which mimics the effects of elevated aldosterone (hyperaldosteronism) by presenting with high blood pressure (hypertension), low blood potassium levels (hypokalemia), metabolic alkalosis, and low levels of plasma renin activity (PRA).

How do you test for Hypoaldosteronism?

ASSAYS

1. Differentiating between the different causes of hypoaldosteronism is done by measurement of the plasma renin activity (PRA), serum aldosterone, and serum cortisol.
2. The PRA is measured by radioimmunoassay (RIA) for angiotensin I after plasma incubation at 37 degrees Celsius.

How do you test for hypoaldosteronism?

What are the signs and symptoms of hypoaldosteronism?

The symptoms of this condition include low sodium (hyponatremia), too much potassium (hyperkalemia), and a condition where the body produces too much acid (metabolic acidosis). These symptoms may cause muscle weakness, nausea, heart palpitations, irregular heartbeat, and abnormal blood pressure.

Is hypoaldosteronism the same as Addison’s?

Hypoaldosteronism can occur as part of the presentation of Addison’s disease, resulting from destruction of both adrenal glands or due to selective injury to cells producing aldosterone. Addison’s disease can be a medical emergency due to deficiency of cortisol, as well as of aldosterone and other mineralocorticoids.

Does low aldosterone cause weight gain?

The link between aldosterone, obesity, and weight gain has been studied in detail. Aldosterone levels are already elevated in obese individuals (without an adrenal tumor). In fact, aldosterone protects fat. Fat cells can stimulate aldosterone release from adrenal tissue.