Clinical Course and Follow-Up o Type 1 Pseudohypoaldosteronism

Abstract

Objective: This study aimed to evaluate the management of primary pseudohypoaldosteronism type 1 (PHA1), which is a rare disease. Materials and Methods: We retrospectively reviewed the hospital records of patients who were followed up with a diagnosis of primary PHA1. Results: Of the eight patients diagnosed with primary PHA1, two had renal PHA1 and five had systemic PHA1. Five patients were initially administered steroids until a definite diagnosis was made. One patient was initially misdiagnosed with congenital adrenal hyperplasia due to "the high-dose hook effect". In patients with systemic PHA1, the highest salt requirement was 32-53 mEq/kg/day, which gradually decreased in all patients. Salt supplementation could not be stopped in patients with systemic PHA1 except one patient. Four of the eight patients died. Conclusion: After excluding the causes that may lead to secondary PHA in the initial evaluation of patients referred with a salt-depletion crisis, a differential diagnosis of congenital adrenal hyperplasia and PHA1 should be made. The hook effect and interference probabilities should be considered for evaluating hormone levels.

Pseudohypoaldosteronism Type 1 with a Novel Mutation in the NR3C2 Gene: A Case Report

“…As ENaC is expressed not only in the distal tubules, but also in the sweat glands, salivary glands, colon, and lung, excessive salt wasting occurs from these organs 11) . Moreover, the salt loss in systemic PHA1 is severe, and symptoms do not improve with age; most patients require lifelong salt supplementation 12) . Renal PHA1 is caused by inactivating mutations of the NR3C2 gene, which encode the mineralocorticoid receptor that is expressed predominantly in the kidney 10) , and characterized by aldosterone resistance only in the kidney.…”