title: Pseudohypoaldosteronism type 1: management issues.
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.
authors.affiliation: Department of Pediatrics, Division of Pediatric Intensive Care, Lady Hardinge Medical College and associated Kalawati Saran Childrens Hospital, New Delhi, India. drrajnisharma@yahoo.com
authors.forename: Rajni
authors.initials: R
authors.lastname: Sharma
authors.forename: Meenu
authors.initials: M
authors.lastname: Pandey
authors.forename: Sandeep Kumar
authors.initials: SK
authors.lastname: Kanwal
authors.forename: Maria Christina
authors.initials: MC
authors.lastname: Zennaro
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010530:Peritoneal Dialysis; D011137:Polystyrenes / Q000627:therapeutic use; D011546:Pseudohypoaldosteronism / Q000097:blood / Q000628:therapy*
chemical_list: D011137:Polystyrenes; C003321:polystyrene sulfonic acid