Pseudohypoaldosteronism type 1: management issues
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Updated: May 11, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Rajni Sharma1, Meenu Pandey, Sandeep Kumar Kanwal
1Department of Pediatrics, Division of Pediatric Intensive Care, Lady Hardinge Medical College and associated Kalawati Saran Childrens Hospital, New Delhi, India. drrajnisharma@yahoo.com
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.
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