Applied genetics in pediatric practice

Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article, we report two cases with systemic PHA presented as a shock in the early neonatal period. They were found to have a known mutation in the SCNN1A gene and subsequently required long-term treatment with high-dose fludrocortisone, antihyperkalemic measures, and added salt in diet. In any neonate who presents with hyponatremia, hyperkalemia, metabolic acidosis, dehydration, shock, and failure to thrive, pediatricians should consider the possibility of PHA as it could be potentially lethal if the diagnosis is delayed. It is also important to differentiate such cases from congenital adrenal hyperplasia.