Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia

Endocrinol Diabetes Metab Case Rep. 2014:2014:130077. doi: 10.1530/EDM-13-0077. Epub 2014 Mar 1.

Abstract

Neonatal hyperkalemia and hyponatremia are medical conditions that require an emergent diagnosis and treatment to avoid morbidity and mortality. Here, we describe the case of a 10-day-old female baby presenting with life-threatening hyperkalemia, hyponatremia, and metabolic acidosis diagnosed as autosomal dominant pseudohypoaldosteronism type 1 (PHA1). This report aims to recognize that PHA1 may present with a life-threatening arrhythmia due to severe hyperkalemia and describes the management of such cases in neonates.

Learning points: PHA1 may present with a life-threatening arrhythmia.Presentation of PHA can be confused with congenital adrenal hyperplasia.Timing and appropriate medical management in the critical care unit prevented fatality from severe neonatal PHA.