Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Abstract excerpt

BACKGROUND: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in eight genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A and HNF1A) are known to cause CHI. AIM: To characterise the clinical and molecular aspects of a large cohort of patients with CHI. METHODOLOGY: Three hundred patients were recruited and clinical information was collected before genotyping. ABCC8 and KCNJ11...

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• ATP-Binding Cassette Transporters
• Cohort Studies
• Congenital Hyperinsulinism
• Diazoxide
• Infant, Newborn