NOVEL MUTATION IN THE CYP11B2 GENE IN AN INFANT WITH CONGENITAL HYPOALDOSTERONISM
- SR Pediatrics Department, HH, DHA, UAE.
- Consultant Pediatrics Department, HH, DHA, UAE.
- SSR Pediatrics Department, HH, DHA, UAE.
- SR General Surgeon, HH, DHA, UAE.
- Abstract
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We report a 4-monthboy infant withisolated congenital hypoaldosteronism due to a novel mutation in CYP11B2 gene who presented with, failure to thrive, profound hyponatremia, hyperkalemia and mild metabolic acidosis, which managed byintravenous saline, oral saline, resoniumandcaloriesformula. In infants with severe electrolyte disturbance,it is important to rule out CAH and consider other rare form of isolated hypoaldosteronism and pseudohypoaldosteronism, since prompt and appropriate treatment will correct the associated electrolytes abnormalities.
[Eyas A. Mukhtar, Mahmoud Al Hussain, Khalid A.M Rahama and Ashraf M. Abdalla (2022); NOVEL MUTATION IN THE CYP11B2 GENE IN AN INFANT WITH CONGENITAL HYPOALDOSTERONISM Int. J. of Adv. Res. 10 (Apr). 757-760] (ISSN 2320-5407). www.journalijar.com
Dubai Health Authority (DHA)
United Arab Emirates
