Pseudohypoaldosteronism Type 1 (arPHA1) Treated With Sodium Polystyrene Sulfonate Pretreated Milk

Abstract

The presentation may be confused with other neonatal endocrinological problems like congenital adrenal hyperplasia, hypoaldosteronism, and Barter syndrome. Type I PHA is further subdivided into 2 distinct entities. 2 The autosomal dominant trait (adPHA1) results from the mutations in the gene encoding mineralocorticoid receptor (NR3C2). 3 The clinical course is mild and is restricted to kidneys. Prognosis for adPHA1 form is good and spontaneous remission is observed over time. The autosomal recessive trait (arPHA1) results from mutations of the genes (SCNN1A, SCNN1B, and SCNN1G) encoding the 3 homologous alpha beta gamma subunits of the amiloride-sensitive epithelial sodium channel (ENaC). 4 This causes loss of function or a decrease in ENaC channel activity. 4 The arPHA1 not only affects kidneys but also affects colon, lung, sweat, and salivary glands. 4 Patients with arPHA1 are reported to have recurrent pulmonary infections with pseudomonas species similar to those seen in cystic fibrosis. 5