Diagnostic and management considerations in pseudohypoaldosteronism type 1b

BMJ Case Rep. 2022 Jan 3;15(1):e246538. doi: 10.1136/bcr-2021-246538.

Abstract

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.

Keywords: congenital disorders; fluid electrolyte and acid-base disturbances; genetics; respiratory medicine.

Publication types

  • Case Reports

MeSH terms

  • Amiloride
  • Epithelial Sodium Channels / genetics
  • Homozygote
  • Humans
  • Hyperkalemia* / diagnosis
  • Hyperkalemia* / etiology
  • Infant, Newborn
  • Pseudohypoaldosteronism* / complications
  • Pseudohypoaldosteronism* / diagnosis
  • Pseudohypoaldosteronism* / genetics

Substances

  • Epithelial Sodium Channels
  • Amiloride