Publication: Persistent Hyperinsulinemic Hypoglycemia in Infancy-A Case Report
Date
2021
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is one of the commonest reasons for severe, intractable hypoglycemia in neonates. Dysregulated insulin secretion is the major underlying pathogenesis which results in hyperinsulinemia, hypoketonemia and hypofatty acidemia. The management is extremely complicated. Early diagnosis and aggressive management of hyperinsulinemic hypoglycemia is essential for prevention of hypoglycemia induced neuronal injury. Here we describe a baby diagnosed as PHHI who was unresponsive to medical management with diazoxide and underwent near total pancreatectomy. Genetic work up revealed a homozygous termination mutation in ABCC8 gene at amino acid position 1452 with heterozygosity in both parents.
Description
Nishanth Rajan
Department of Paediatrics, Pondicherry Institute of Medical Sciences, Puducherry, India
Jamuna Kalpana
Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India
Sundaramoorthy Gopi
Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India
Vishwanathan Mohan
Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India and Dr. Mohan's Diabetes Specialities Centre, Chennai, India
Venkatesan Radha
Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, India
Lalitha Krishnan
Department of Paediatrics, Pondicherry Institute of Medical Sciences, Puducherry, India
Keywords
ABCC8 mutation, Diazoxide, Hypoglycemia, Hyperinsulinemia