ESPE2015 Poster Category 2 Hypo (12 abstracts)
aDiyarbakir Child Health Hospital, Pediatric Endocrinology, Diyarbakir, Turkey; bDiyarbakir Child Health Hospital, Neonatology, Diyarbakir, Turkey; cInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Background: Hyperinsulinaemic Hypoglycaemia (HH) is a rare genetic disease and the treatment of HH in cases with unresponsiveness to medical therapy is subtotal pancreatectomy. In a recent study, the authors showed that sirolimus could be an alternative treatment in these patients. We aimed to evaluate the effectiveness of sirolimus in a newborn with HH.
Case: A 10 day-old neonate presented with hyperinsulinaemic hypoglycaemia (glucose: 26 mg/dl, insulin: 55 mIU/ml). She was born at term with a birth weight of 3300 gr. Hypoglycaemia had persisted despite the administration of high intravenous (IV) glucose (perfusion rate up to 20 mg/kg/min) and diazoxide (15 mg/kg/d). Octreotide was added on postnatal 14th day and increased to 40 mcg/kg/d. Due to the unresponsiveness to octreotide, glucagon infusion (0.01 mg/kg/h) and sirolimus (0.5 mg/m2/d) were started on postnatal 21st day and sirolimus doses were titrated according to plasma sirolimus levels. Diazoxide and glucagon therapies were discontinued after 2 weeks of sirolimus treatment (table 1). IV hydration was stopped on 34th day of sirolimus and she was discharged with octreotide and sirolimus on 44th day. She is currently 5 months old and still uses sirolimus with no side effects and octreotide (10 mcg/kg/d). A novel homozygous ABBC8 mutation (p.H59P) was detected.
5. day | 11. day | 16. day | 19. day | 24. day | 30. day | 34. day | 44. day | 77. day | ||
Sirolimus level (4.528 μg/l) | 3.1 | 20 | 10 | 4,6 | 10.9 | 8 | 7.7 | 9.9 | 11.9 | |
Sirolimus dose (mg/m2/d) | 0.5 | 1 | 1 | 1 | 1.6 | 1.6 | 2.3 | 3 | 2.4 | |
Octreotide dose (μg/kg/d) | 40 | 40 | 40 | 40 | stop | 40 | 40 | 40 | 25 | |
Glucagon (μg/kg/h) | 10 | 5 | stop | |||||||
GPR (mg/kg/min) | 18 | 10 | 6 | 12.5 | 5 | 10 | stop | |||
Diazoxide dose (mg/kg/d) | 15 | 5 | stop |
Conclusion: Sirolimus could be beneficial in patients with unresponsiveness to diazoxide and octreotide treatment.