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.
Overview publication
Title | Journal Digest for Congenital Hyperinsulinism |
Date | June 27th, 2019 |
Authors | |
MTGs | MTG3 |
Read | Download publication: ‘Journal-Digest-for-Congenital-Hyperinsulinism.pdf’ (, 73 KB) |