Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature
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Mercedes J. Burnside
,
Paul Benitez-Aguirre
,
Ashley Alexander
Abstract
Objectives
Hyperinsulinemic hypoglycaemia (HH) presents significant management challenges, especially in cases refractory to standard therapies. This case series aims to report the efficacy and safety of sirolimus, an mTOR inhibitor, as an adjunctive therapy in persistent HH, noting that current clinical guidelines caution its use outside of research.
Case presentation
We report a case series from two paediatric endocrinology centres across Australia, describing use of sirolimus in four infants with persistent HH refractory to conventional treatments or post near-total pancreatectomy. Retrospective chart reviews provided clinical and biochemical data, documenting each patient’s sirolimus dosing, treatment responses, and adverse events.
Conclusions
Sirolimus emerged as a useful and safe adjunct, enabling hospital discharge, and demonstrating efficacy even at lower serum trough levels. Despite safety concerns, including recurrent viral infections in one patient, sirolimus was generally well-tolerated. We advocate for implementing risk mitigation strategies, including a multidisciplinary approach, and maintaining lower sirolimus trough levels than previously recommended. Careful consideration of sirolimus is warranted in select cases of severe diffuse HH, emphasising ongoing monitoring for adverse effects and further research to refine treatment guidelines.
Acknowledgments
The authors would like to thank the clinicians who provided clinical care for the patients, and are grateful to the patients and their families for participating in the case series.
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Research ethics: Not applicable.
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Informed consent: Informed consent was obtained from all individuals included in this study, or their legal guardians or wards.
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Author contributions: All authors drafted the manuscript and/or contributed to the review and editing of the manuscript, vouch for the accuracy of the material, and had final responsibility for the decision to submit for publication.
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Competing interests: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
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Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/jpem-2024-0348).
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Artikel in diesem Heft
- Frontmatter
- Review
- Refractory hypothyroidism in children: an overview
- Original Articles
- Oral glucose tolerance test curve shape in Mexican children and adolescents with and without obesity
- Reliability of self-reported pubertal development scale for girls in early adolescent: a school population-based study
- Allergic reactions to enzyme replacement therapy in children with lysosomal storage diseases and their management
- The role of Cardiotrophin-1 and echocardiography in early detection of subclinical diabetic cardiomyopathy in children and adolescents with type 1 diabetes mellitus
- Evaluation of the etiology of subclinical hypothyroidism in children
- Long-term efficacy and safety of PEGylated recombinant human growth hormone in treating Chinese children with growth hormone deficiency: a 5-year retrospective study
- Case Reports
- Effective and safe use of sirolimus in hyperinsulinemic hypoglycaemia refractory to medical and surgical therapy: a case series and review of literature
- Diabetes and CFAP126 gene mutation; are they really linked together?
- Pronounced neonatal breast enlargement beyond the first week of life and its regression correlates with serum prolactin levels – a case series
- A successful liver transplantation in a patient with neonatal-onset carbamoyl phosphate synthetase-1 deficiency
- Corrigendum
- New data supporting that early diagnosis and treatment are possible and necessary in intracellular cobalamin depletion: the case of transcobalamin II deficiency
