Background: Congenital hyperinsulinism (CHI) is a rare condition that becomes the most frequent cause of severe and persistent hypoglycemia in infants and young children. It may lead to debilitating morbidity and mortality if being diagnosed lately. Congenital hyperinsulinism can be caused by monogenic or syndromic disorders. The prevalence of CHI in Indonesia is still unknown. However, the increasing number of cases referred to the tertiary hospital recently may indicate that true prevalence of CHI in Indonesia is predicted to be higher due to underdiagnosis.
Objective: To demonstrate clinical manifestation, responses of medical and surgical intervention in infants and young children with congenital hyperinsulinism in a tertiary referral hospital in Indonesia.
Results: There were 14 cases of hyperinsulinism-induced hypoglycemia from January 2018 until March 2022 in Cipto Mangunkusumo General Hospital. Median age of diagnosis was 90 days with a range between 5 days until 7 years old. Subjects were 7 females (50%) and 7 males (50%). Median insulin level during critical sampling examination was 14.2 µU/ml (5.2-62.2 µU/mL). Majority of the patients (57%) were diazoxide-responsive. Genetic tests revealed that there were 4 patients with ABCC8 mutation (29%), 4 with KCNJ11 mutation (29%), 2 with unknown type (14%), 1 with GLUD1 mutation (7%), 1 associated with Beckwith-Wiedemann syndrome (7%). One patient with KCNJ11 mutation died due to complications of severe infection during hospitalisation. Pancreatic CT-scan or MRI was performed in the majority of the patients. Three patients received surgery management; 2 patients with near-total pancreatectomy and 1 patient with lesion resection surgery. All three patients showed normoglycemia after surgery and thus required no medication. Other 10 patients have been receiving subcutaneous octreotide with doses 5-15 mg/kg/day without any significant hypoglycemic periods. Cornstarch was also given to 4 patients to keep their blood glucose above the target (> 70 mg/dL).
Conclusion: Congenital hyperinsulinism is a rare disease that needs comprehensive management, including medical treatment, frequent feeding, and pancreatic surgery. Octreotide and cornstarch added to the formula were given to the patients to maintain normoglycemia. Lack of access to diazoxide and PET-scan examination have become major challenges in managing CHI in Indonesia. Surgery management was taken into consideration to save the brain from long-term threatening impact of recurrent hypoglycemia.
15 Sep 2022 - 17 Sep 2022