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.