What is "pseudohypoaldosteronism"

n. (context medicine English) A medical condition that mimics hypoaldosteronism.

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:

Type

OMIM

Gene

Description

PHA1AD

MLR

with sodium wasting

PHA1AR

SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel

with sodium wasting

PHA2

WNK4, WNK1

without sodium wasting. TRPV6 may be involved.