Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China

ABSTRACT:

Objective

To explore the clinical presentation and molecular genetic characteristics of a cohort of congenital hyperinsulinism (CHI) patients from southern China and also to explore the most appropriate therapeutic approaches.

Methods

We retrospectively reviewed a cohort of 65 children with CHI. Mutational analysis was performed for KCNJ11 and ABCC8 genes. The GLUD1 gene was sequenced in patients with hyperammonaemia. GCK gene sequencing was performed in those patients with no mutation identified in the ABCC8, KCNJ11 or GLUD1 genes.

Results

ABCC8 mutations were identified in 16 (25%) of the cohort, GLUD1 mutations were identified in five children, and no KCNJ11 or GCK mutations were identified. More

SUBMITTER: Xu A 

PROVIDER: S-EPMC6878346 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature