Pseudohypoaldosteronism type 1: management issues

Indian Pediatr. 2013 Mar;50(3):331-3. doi: 10.1007/s13312-013-0070-8.

Abstract

We report a newborn girl with life-threatening hyperkalemia and salt wasting crisis due to severe autosomal recessive multiple target organ dysfunction pseudohypoaldosteronism type 1 (MTOD PHA1). She was aggressively managed with intravenous fluids, potassium-lowering agents, high-dose sodium chloride supplementation and peritoneal dialysis. Genetic analysis revealed a homozygous mutation of the α- ENaC (epithelial Na(+) channel) gene. She had a stormy clinical course with refractory hyperkalemia and prolonged hospitalization. Eventually, she succumbed to pneumonia and septicemia at 4 months of age. This is probably the first case of PHA1 confirmed by genetic analysis from India.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Peritoneal Dialysis
  • Polystyrenes / therapeutic use
  • Pseudohypoaldosteronism / blood
  • Pseudohypoaldosteronism / therapy*

Substances

  • Polystyrenes
  • polystyrene sulfonic acid