Pseudohypoaldosteronism

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Pseudohypoaldosteronism

Pseudohypoaldosteronism (pronounced: soo-doh-hy-poh-al-dos-ter-on-izm) is a group of rare, inherited or sporadic conditions that mimic the symptoms but not the consequences of aldosteronism. The term is derived from the Greek words "pseudo" meaning false, "hypo" meaning under, and "aldosteronism" referring to the condition caused by elevated levels of the hormone aldosterone.

Types

There are two types of Pseudohypoaldosteronism: Type 1 and Type 2.

  • Pseudohypoaldosteronism Type 1 (PHA1) is characterized by resistance to the action of aldosterone, leading to salt wasting, hyperkalemia, and metabolic acidosis. It can be further divided into two subtypes: autosomal dominant (PHA1A) and autosomal recessive (PHA1B).
  • Pseudohypoaldosteronism Type 2 (PHA2), also known as Gordon's syndrome, is characterized by hypertension, hyperkalemia, and metabolic acidosis. It is caused by mutations in the WNK1, WNK4, CUL3, or KLHL3 genes.

Symptoms

The symptoms of Pseudohypoaldosteronism can vary greatly depending on the type and severity of the condition. Common symptoms include dehydration, hyperkalemia, metabolic acidosis, and hypertension.

Diagnosis

Diagnosis of Pseudohypoaldosteronism is typically made through a combination of clinical examination, laboratory tests, and genetic testing. Laboratory tests may include blood tests to measure levels of electrolytes and aldosterone, and urine tests to assess the body's ability to retain salt.

Treatment

Treatment for Pseudohypoaldosteronism is primarily focused on managing the symptoms and preventing complications. This may include dietary modifications, medication to manage electrolyte imbalances, and in some cases, hormone replacement therapy.

See also

External links

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