Pseudohypoaldosteronism (PHA) type 1 is a disease showing
mineralocorticoid resistance in the kidney and/or other
mineralocorticoid target tissues. Patients with PHA1 present very high plasma
aldosterone and
renin levels, but they develop excessive
salt wasting. There are three types of PHA1. The systemic form of PHA1 is inherited in an autosomal recessive manner and causes severe life-long
salt loss in multiple target tissues, such as sweat glands, salivary glands, the colonic epithelium, and the lung. In the systemic form of PHA1, life-long
salt supplementation is necessary. The second type is the renal form, where
aldosterone resistance is shown only in the kidney, and its inheritance is autosomal dominant. In the renal form of PHA1,
salt supplementation generally becomes unnecessary by 1-3 yr of age. The third type is the secondary PHA1, which is strongly associated with
urinary tract infections and/or urinary tract malformations. This review summarizes the clinical features and molecular basis of PHA1. Understanding of its pathogenesis can be helpful for the early diagnosis and clinical care of affected children with PHA1.