Mineralocorticoid Resistance

David S. Geller


Clin Endocrinol. 2005;62(5):513-520. 

In This Article

Pseudohypoaldosteronism Type 1

First described in 1958 by Cheek and Perry,[12] pseudohypoaldosteronism type 1 (PHA1) is a rare condition characterized by renal resistance to the actions of aldosterone; patients exhibit salt wasting, hyperkalaemia and metabolic acidosis despite elevated serum aldosterone levels. Early attempts to determine the molecular basis of PHA1 led to conflicting results. Armanini and colleagues suggested that PHA1 is caused by a genetic absence of the MR , as they were unable detect functional receptors in lymphocytes of PHA1 patients.[13] However, multiple attempts to identify disease-causing mutations in the MR gene proved unsuccessful,[14—16] leaving the underlying disease mechanism in doubt. The situation was clarified somewhat with the realization that the term PHA1 refers to two similar but easily distinguishable forms, an autosomal recessive form and an autosomal dominant form.[17] Each is described in detail below.