Ontology highlight
ABSTRACT:
SUBMITTER: Is?k E
PROVIDER: S-EPMC6398184 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Işık Emregül E Demirbilek Hüseyin H Houghton Jayne A. JA Ellard Sian S Flanagan Sarah E. SE Hussain Khalid K Hussain Khalid K
Journal of clinical research in pediatric endocrinology 20180329 1
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children. Recessive inactivating mutations in the <i>ABCC8</i> and <i>KCNJ11</i> genes account for approximately 50% of all CHI cases. Hyperinsulinaemic hypoglycaemia in infancy and diabetes in later life have been reported in patients with <i>HNF1A, HNF4A</i> and <i>ABCC8</i> mutations. Herein, we present a child who was diagnosed with CHI at birth, then developed diabetes mellitus at the age of ...[more]