Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution.

ype 1 pseudohypoaldosteronism (PHA-1) was first described n 1958 by Cheek and Perry.1 It is a rare syndrome of aldoserone unresponsiveness, expressed in two forms: renal HA-1 and systemic PHA-1.2,3 Renal PHA-1 results from autoomal dominant mutations in the kidney mineralocorticoid eceptor. As the mineralocorticoid resistance is limited to ne organ, the phenotype is milder and often improves sponaneously due to proximal nephron maturation. Systemic HA-1 results from autosomal recessive mutations in the enes encoding , and subunit of epithelial sodium chanels (ENaC) that exist in multiple organs (kidney, colon, ung, salivary and sweat glands), and therefore the pheotype is severe. Symptoms manifest during the first week f life and require prolonged hospitalizations. Salt-wasting pisodes recur frequently and the patients need lifelong igh-salt therapy. The mortality rate is high, especially durng the neonatal period. In both forms, diagnosis is established by the presnce of high levels of serum aldosterone and plasma enin activity associated with findings typical of hypoalosteronism (hyponatremia, hyperkalemia and metabolic cidosis). Herein we describe the evolution of a previously reported ase of systemic PHA-1 due to homozygous mutation in ntron 3 of the SCNN1A gene (c.1052 + 2dupT)4 and our theapeutic approach. Male child, born at full term with birth weight of 3010 g 10--25th percentile). There was no parental consanguiity. His 11-year-old sister had Chediak--Higashi syndrome. e was admitted in the Emergency Room at the tenth ay of life with hypovolemic shock, severe hyponatremia 125 mEq/L), hyperkalemia (>10 mEq/L) and metabolic aciosis (pH 7.28, pCO2 48.9 mmHg, HCO3 22.6 mmol/L, BE 4 mEq/L). He received normal saline to correct dehydraion and calcium gluconate, sodium bicarbonate, nebulized albutamol, insulin infusion and rectal cation-exchange resin sodium polystyrene sulfonate) to control hyperkalemia. Iniially a clinical diagnosis of congenital adrenal hyperplasia 2 3 u f