Endocrine Abstracts

JOINT1710

Background: Continuous enteral glucose infusion through gastric tube may be useful in patients with congenital hyperinsulinism (CHI) or pathological ketotic hypoglycemia (pKH). Home-based enteral treatment with infusion pump is, however, limited by impracticalities for patients and their caregivers.

Methods: We developed the novel use of enteral portable elastomeric pump (ePEP) therapy to deliver home-based continuous enteral carbohydrates through gastrostomy. The first pilot results of this novel treatment modality are presented.

Results: Ten pediatric patients (girls, n = 7) were enrolled. Six patients had pKH with unknown background (n = 4); Russel-Silver syndrome (n = 1), or clinical glycogen storage disease with digenic heterozygous PYGL and GBE1 DNA variants (n = 1). Four patients had diffuse CHI with biallelic ABCC8 mutations (n = 2), activating GCK mutation (n = 1), or CHI with associated organ malformations of unknown cause (n = 1). Prior surgical treatment for ABCC8-CHI included near-total or partial pancreatectomy (n = 2). All patients had a gastrostomy. Prior or concomitant treatment included continuous i. v. glucose (n= 7), continuous i. v. glucagon (n = 3), diazoxide (n = 8), octreotide (n = 8) long-acting somatostatin analogue (n = 5), sirolimus (n = 3), dietary cornstarch (n = 9), extended-release cornstarch (n = 9), protein supplementation (n = 8), and/or overnight gastrostomy tube feeding with liquid full-dietary products (n=9), glucose (n = 8), or maltose (n = 8). Home-based ePEP therapy with home-blended glucose 10-40% was initiated at the median (range) age of 5. 4 (0. 3-15. 1) years. Maltose or apple juice was used alternatively in two for shorter periods. The median (range) duration of ePEP was 1. 25 months (4 hours to 26 months). Three patients aged 1. 8 y (ABCC8-CHI), 5. 4 y (GCK-CHI) and 13. 9 y (pKH) still use ePEP therapy at present after 7, 19 and 26 months, with high satisfaction in terms of improved glucose control and ease of daily living. One patient (8. 7 y; pKH) reported improved and good glucose control, relief of abdominal pain after discontinuation of extended release cornstarch and normalization of appetite, after which glucose was stable on oral diet only. Reports of insufficient (n = 3) or no (n = 2) improvement in glucose control, or hyperglycemia (n = 1) was associated with early discontinuation. The ePEP therapy was reportedly easy to use in seven and difficult to use in three. One reported skin irritation.

Conclusion: ePEP therapy with carbohydrates is a promising supplement to selected patients with CHI or pKH, although not continued by all due to insufficient effect, hyperglycemia or difficulties. This should encourage to formal trials with long-term follow-up on dose, effect, quality of life and adverse effects, e. g. on the intestinal microbiome.