Abstract
Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder characterized by resistance to aldosterone. Infants often present with weight loss, emesis, and dehydration, and expected lab values include hyponatremia, hyperkalemia, elevated aldosterone, and elevated urinary sodium excretion. However, there can be wide phenotypic variability with PHA1, which this case highlights. Case Report An 18 day-old male term, appropriate for gestational age infant with a history of a normal newborn screen presented to the Emergency Department with lethargy, poor feeding, and weight loss of 1lb 10oz since birth. Initial exam …
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