ICD-10 N25.8 MeSH D011546 | eMedicine article/924100 | |
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OMIM 177735 614495 614491 614496 614492 145260 264350 177735 614495 614491 614496 614492 145260 | ||
Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism. However, the condition is due to a failure of response to aldosterone, and levels of aldosterone are actually elevated, due to a lack of feedback inhibition.
This syndrome was first described by Cheek and Perry in 1958. Later pediatric endocrinologist Aaron Hanukoglu reported that there are two independent forms of PHA with different inheritance patterns: Renal form with autosomal dominant inheritance exhibiting salt loss mainly from the kidneys, and multi-system form with autosomal recessive form exhibiting salt loss from kidney, lung, and sweat and salivary glands.
Treatment of severe forms of PHA requires relatively large amounts of sodium chloride. These conditions also involve hyperkalemia.
Types include: