Browsing by Author "Kanwal, Sandeep Kumar"
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Item Pseudohypoaldosteronism Type 1: Management Issues.(2013-03) Sharma, Rajni; Pandey, Meenu; Kanwal, Sandeep Kumar; Zennaro, Maria ChristinaWe 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, potassiumlowering 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.