Octreotide-related exocrine pancreatic insufficiency (EPI) in congenital hyperinsulinism
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Purificación Ros-Pérez
,
Luz Golmayo
Abstract
Background
Congenital hyperinsulinism (CH) is the most frequent cause of persistent hypoglycemia in the newborn. Octreotide, a long-acting somatostatin receptor analog (SSRA), is a second line treatment for diazoxide unresponsive CH patients. Although it has been found to be a safe and effective treatment, long-term benefits and side effects, have not been thoroughly evaluated.
Case presentation
Some authors have indicated that exocrine pancreatic insufficiency (EPI) is a common but under-recognized adverse reaction in adults treated with octreotide. However, no pediatric patient with SSRA-induced EPI has been reported to date. Here we report a case of an infant with diazoxide unresponsive, diffuse CH, caused by a heterozygous pathogenic paternally inherited mutation in the ABCC8 gene (NM_000352.4:c.357del), that developed exocrine pancreatic insufficiency and secondary vitamin K deficiency associated to chronic octreotide therapy.
Conclusions
We point out the atypical clinical onset with a cutaneous hemorrhagic syndrome, emphasizing the clinical relevance of this potential side effect.
Acknowledgments
The authors wish to thank Dr. Julie A. Chowen for the critical review of the manuscript.
Research funding: The authors declare that this study received no financial support.
Author contributions: PRP, MG and JA wrote the manuscript. PRP, LG, MLC, CG, PC, NL and IMB were responsible for patient visits and clinical work-up. PRP was involved in data acquisition. Result analysis and interpretation, as well as manuscript drafting, was performed by all authors. All authors critically reviewed the drafts of the manuscript for accuracy and intellectual content, and read and approved the final version.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The parents of the patient gave informed consent as required by the local ethics committee in accordance with the “Ethical Principles for Medical Research Involving Human Subjects” adopted in the Declaration of Helsinki by the World Medical Association (64th WMA General Assembly, Fortaleza, Brazil, October 2013).
References
1. Kostopoulou, E, Shah, P. Hyperinsulinaemic hypoglycaemia-an overview of a complex clinical condition. Eur J Pediatr 2019;178:1151–60. https://doi.org/10.1007/s00431-019-03414-8.Search in Google Scholar PubMed
2. Galcheva, S, Demirbilek, H, Al-Khawaga, S, Hussain, K. The genetic and molecular mechanisms of congenital hyperinsulinism. Front Endocrinol 2019;10:111. https://doi.org/10.3389/fendo.2019.00111.Search in Google Scholar PubMed PubMed Central
3. Rosenfeld, E, Ganguly, A, De Leon, DD. Congenital hyperinsulinism disorders: genetic and clinical characteristics. Am J Med Genet Part C 2019;181C:682–92. https://doi.org/10.1002/ajmg.c.31737.Search in Google Scholar PubMed PubMed Central
4. Banerjee, I, Salomon-Estebanez, M, Shah, P, Nicholson, J, Cosgrove, KE, Dunne, MJ. Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia. Diabet Med 2019;36:9–21. https://doi.org/10.1111/dme.13823.Search in Google Scholar PubMed PubMed Central
5. Hosokawa, Y, Kawakita, R, Yokoya, S, Ogata, T, Ozono, K, Arisaka, O, et al. Efficacy and safety of octreotide for the treatment of congenital hyperinsulinism: a prospective, open-label clinical trial and an observational study in Japan using a nationwide registry. Endocr J 2017;64:867–80. https://doi.org/10.1507/endocrj.EJ17-0024.Search in Google Scholar PubMed
6. McMahon, AW, Wharton, GT, Thornton, P, De Leon, DD. Octreotide use and safety in infants with hyperinsulinism. Pharmacoepidemiol Drug Saf 2017;26:26–31. https://doi.org/10.1002/pds.4144.Search in Google Scholar PubMed PubMed Central
7. Saif, MW, Larson, H, Kaley, K, Shaib, W. Chronic octreotide therapy can induce pancreatic insufficiency: a common but under recognized adverse effect. Expert Opin Drug Saf 2010;9:867–73. https://doi.org/10.1517/14740338.2010.510130.Search in Google Scholar PubMed
8. Lamarca, A, McCallum, L, Nuttall, C, Barriuso, J, Backen, A, Frizziero, M, et al. Somatostatin analogue-induced pancreatic exocrine insufficiency in patients with neuroendocrine tumors: results of a prospective observational study. Expert Rev Gastroenterol Hepatol 2018;12:723–31. https://doi.org/10.1080/17474124.2018.1489232.Search in Google Scholar PubMed
9. Saint-Martin, C, Zhou, Q, Martin, GM, Vaury, C, Leroy, G, Arnoux, JB, et al. Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism Clin Genet 2015;87:448–54. https://doi.org/10.1111/cge.12428.Search in Google Scholar PubMed PubMed Central
10. Szabo, CE, Man, OI, Şerban, RS, Kiss, E, Lazăr, CF. Bruising as the first sign of exocrine pancreatic insufficiency in infancy. Med Pharm Rep 2019;92:200–4. https://doi.org/10.15386/mpr-1231.Search in Google Scholar PubMed PubMed Central
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- Frontmatter
- Review Articles
- Definition and early diagnosis of metabolic syndrome in children
- Cystic fibrosis-related diabetes: an update on pathophysiology, diagnosis, and treatment
- Original Articles
- Association of sleep characteristics with adiposity markers in children
- Prevalence of abdominal obesity in non-obese adolescents: a North Indian adolescent study
- Utility of estimated glucose disposal rate for predicting metabolic syndrome in children and adolescents with type-1 diabetes
- Continuous glucose monitoring reduces pubertal hyperglycemia of type 1 diabetes
- Association between eating behavior, anthropometric and biochemical measurements, and peptide YY (PYY) hormone levels in obese adolescents in outpatient care
- Autoimmune hyperthyroidism in children & adolescents in Sudan: a 13 years’ experience of a Paediatric Endocrinology Clinic
- Timing, prevalence, and dynamics of thyroid disorders in children and adolescents affected with Down syndrome
- Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt
- Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)
- Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa
- Growth and metabolic effects of long-term recombinant human growth hormone (rhGH) treatment in short children born small for gestational age: GH-RAST study
- Menstrual cycle, reproductive function, body mass index, and metabolic profiles of women with former central precocious puberty: 10–20-year longitudinal cohort study in southern Thailand
- Letter to the Editors
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- Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency
- Efficacy and safety of denosumab treatment in a prepubertal patient with cherubism
