ESPE Abstracts (2015) 84 P-2-489


The Effectiveness of Sirolimus in a Newborn with Hyperinsulinaemic Hypoglycaemia

Belma Haliloglua, Heybet Tuzunb, Sarah Flanaganc, Avni Kayaa & Muhittin Celikb


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.

Table 1 The follow-up of the patient after sirolimus treatment.
5. day 11. day 16. day 19. day 24. day 30. day 34. day 44. day 77. day
Sirolimus level (4.5–28 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.

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