Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.

BACKGROUND

There is limited data from India regarding medical management of congenital hyperinsulinism (CHI).

OBJECTIVE

To study the molecular diagnosis, medical management and outcomes of children with CHI.

STUDY DESIGN

Ambispective.

PARTICIPANTS

Children with CHI admitted in from December, 2011 till March, 2020 at a tertiary care referral hospital.

OUTCOMES

Clinical and genetic profile, treatment, and response.

RESULTS

42 children with a median age of 3 days (range 1 day to 6 years) were enrolled, of which 23 (54.7%) were diazoxide-responsive. Mutations were identified in 28 out of 41 (68.2%) patients. The commonest gene affected was ABCC8 in 22 patients. The pathogenic variant c.331G>A in ABCC8 gene was identified in 6 unrelated cases from one community. Good response to daily octreotide was seen in 13 of the 19 (68.4%) diazoxide-unresponsive patients. Monthly long-acting octreotide was initiated and daily octreotide could be stopped or tapered in 9 patients. Sirolimus was tried with variable response in 6 patients but was discontinued in 5 due to adverse effects. Four patients had focal CHI, of which one underwent partial pancreatic resection. The disease severity reduced with age and neurodevelopment was good in the patients with identifiable genetic defects who were optimally managed.

CONCLUSIONS

Medical management of CHI is effective, if compliance can be ensured, with good quality of life and neurological outcomes.