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1.
Indian Pediatr ; 2014 Dec; 51(12): 1019-1020
Article in English | IMSEAR | ID: sea-170977
2.
Indian Pediatr ; 2013 March; 50(3): 331-333
Article in English | IMSEAR | ID: sea-169727

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, 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.

3.
Indian Pediatr ; 2012 June; 49(6): 490-492
Article in English | IMSEAR | ID: sea-169374

ABSTRACT

Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.

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