Journal Digest for Congenital Hyperinsulinism

Abstract

A Chinese cohort of patients with CHI (n=50) were characterised; 52% were diazoxide unresponsive. Gene variants suggestive of pathologic changes were identified in 48% which is similar to EU and US rates of genetic diagnosis in CHI. In this enriched cohort, 32% had focal lesions, although not all (75%) were cured by lesionectomy surgery. The presence of hotspots in ABCC8 and KCNJ11 for Chinese patients was noted. This study confirms and reinforces existing knowledge that ATP-sensitive K+ channel mutations are the predominant causes of CHI not only in the EU and US but also in China.