Diagnostic and management considerations in pseudohypoaldosteronism type 1b.
Jelte KelchtermansSara E PinneyJacqueline M M LeonardSharon Mcgrath-MorrowPublished in: BMJ case reports (2022)
Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaCs). We present the case of a neonate with cardiogenic shock after cardiac arrest due to profound hyperkalaemia. Genetic testing revealed a novel homozygous variant in SCNNIA We review diagnostic considerations including the molecular mechanisms of disease, discuss treatment approaches and highlight the possible significance of the diversity of pulmonary ENaCs.