Congenital hyperinsulinism patient with ABCC8 and KCNJ11 double heterozygous variants: a case report with 6 years follow-up

Congenital hyperinsulinism (CHI) with variants in ABCC8 and KCNJ11 is highly correlated with poor responsiveness to diazoxide, a first-line medication of CHI. Currently, there is only one reported case of a patient with CHI due to double heterozygous variants of ABCC8 and KCNJ11. Little is known about the long-term prognosis of the CHI patient with ABCC8 and KCNJ11 double heterozygous variants. Herein, we report a CHI patient with ABCC8 and KCNJ11 double heterozygous variants after 6 years of follow-up.