Ann Pediatr Endocrinol Metab.  2021 Dec;26(4):278-283. 10.6065/apem.2142010.005.

Pasireotide treatment for severe congenital hyperinsulinism due to a homozygous ABCC8 mutation

• Mooij CF
• Tacke CE
• van Albada ME
• Barthlen W
• Bikker H
• Mohnike K
• Oomen MW
• van Trotsenburg AP
• Zwaveling-Soonawala N

• KMID: 2523835
• DOI: http://doi.org/10.6065/apem.2142010.005

Abstract

ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsulinism (CHI). Somatostatin analogues are considered as secondline treatment in diazoxide-unresponsive cases. Current treatment protocols include the first-generation somatostatin analogue octreotide, although pasireotide, a second-generation somatostatin analogue, might be more effective in reducing insulin secretion. Herein we report the first off-label use of pasireotide in a boy with a severe therapy-resistant form of CHI due to a homozygous ABCC8 mutation. After partial pancreatectomy, hyperinsulinism persisted; in an attempt to prevent further surgery, off-label treatment with pasireotide was initiated. Short-acting pasireotide treatment caused high blood glucose level shortly after injection. Long-acting pasireotide treatment resulted in more stable glycemic control. No side effects (e.g., central adrenal insufficiency) were noticed during a 2-month treatment period. Because of recurrent hypoglycemia despite a rather high carbohydrate intake, the boy underwent near-total pancreatectomy at the age of 11 months. In conclusion, pasireotide treatment slightly improved glycemic control without side effects in a boy with severe CHI. However, the effect of pasireotide was not sufficient to prevent near-total pancreatectomy in this case of severe CHI.

Keyword

Congenital hyperinsulinism; Pasireotide; Somatostatin analogue; Pancreatectomy