Pseudohypoaldosteronism

Pseudohypoaldosteronism (PHA) is a medical condition that involves the kidneys and the aldosterone hormone. It is characterized by an apparent state of aldosterone deficiency, despite having normal or elevated levels of the hormone in the body. There are two types of PHA: Type 1 and Type 2.

Type 1 Pseudohypoaldosteronism

Type 1 PHA is further divided into two subtypes: autosomal dominant and autosomal recessive. The autosomal dominant form is also known as PHA1A or renal PHA1, and the autosomal recessive form is known as PHA1B or systemic PHA1.

PHA1A

PHA1A is caused by mutations in the mineralocorticoid receptor gene (NR3C2). It is characterized by salt-wasting, hyperkalemia, and metabolic acidosis. Symptoms usually appear in the neonatal period and improve with age.

PHA1B

PHA1B is caused by mutations in the genes encoding the epithelial sodium channel (ENaC). It is characterized by severe salt-wasting, failure to thrive, and recurrent pneumonia. Unlike PHA1A, symptoms do not improve with age.

Type 2 Pseudohypoaldosteronism

Type 2 PHA, also known as Gordon's syndrome, is caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 genes. It is characterized by hypertension, hyperkalemia, and metabolic acidosis.

Diagnosis

Diagnosis of PHA is based on clinical symptoms, laboratory findings, and genetic testing. Laboratory findings typically show low levels of sodium and high levels of potassium in the blood. Genetic testing can confirm the diagnosis and identify the specific type of PHA.

Treatment

Treatment of PHA involves managing the symptoms and preventing complications. This may include a low-potassium diet, medications to lower potassium levels, and in some cases, hormone replacement therapy.

See also

• Aldosterone
• Kidney
• Hyperkalemia
• Metabolic acidosis

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