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Year : 2022  |  Volume : 1  |  Issue : 3  |  Page : 61-63

Applied genetics in pediatric practice: Case series on pseudohypoaldosteronism

1 Department of Paediatrics, Malabar Institute of Medical Sciences, Calicut, India
2 Department of Neonatology, Malabar Institute of Medical Sciences, Calicut, India
3 Medical Genetics, Malabar Institute of Medical Sciences, Calicut, Kerala, India

Correspondence Address:
Dr. M Shagufa
Department of Paediatrics and Neonatology, Aster Malabar Institute of Medical Sciences, Calicut 673016, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pedc.pedc_7_23

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Systemic pseudohypoaldosteronism (PHA) type I is a rare genetic disorder resulting from mutations in the subunits of the epithelial sodium channel that manifests as severe salt wasting, hyperkalemia, and metabolic acidosis in infancy. In this article, we report two cases with systemic PHA presented as a shock in the early neonatal period. They were found to have a known mutation in the SCNN1A gene and subsequently required long-term treatment with high-dose fludrocortisone, antihyperkalemic measures, and added salt in diet. In any neonate who presents with hyponatremia, hyperkalemia, metabolic acidosis, dehydration, shock, and failure to thrive, pediatricians should consider the possibility of PHA as it could be potentially lethal if the diagnosis is delayed. It is also important to differentiate such cases from congenital adrenal hyperplasia.

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