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Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism
Joint Authors
Sahebkar, Amirhossein
Hashemian, Somayyeh
Karimdadi, Siroos
Vakili, Rahim
Zamanfar, Daniel
Jafarzadeh Esfehani, Reza
Source
International Journal of Endocrinology
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-07-22
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Background.
Congenital hyperinsulinism (CHI) is a rare and life-threatening genetic disorder.
Sirolimus as a mammalian target of rapamycin inhibitor may be helpful in patients with CHI who do not respond well to other treatments including diazoxide and octreotide.
However, the safety and efficacy of this therapy are still unclear.
This study aimed to evaluate the potential therapeutic effects of sirolimus in CHI patients with mutations in the ABCC8 and KCNJ11 genes.
Methods.
During the period of this follow-up study, every child with a confirmed diagnosis of unresponsive CHI underwent genetic evaluation.
Among those who had positive genetic testing, six families agreed to participate in this study.
The participants were evaluated for ABCC8, KCNJ11, or HNF4α gene mutations by polymerase chain reaction (PCR) sequencing.
The participants who were unresponsive to diazoxide and octreotide therapy received 0.5 mg/m2/d of sirolimus, and the dose was gradually increased until a serum concentration of 5–15 ng/ml was achieved.
Then, the participants were followed up for any possible complications.
Results.
Among the study participants, only one neonate was completely free of hypoglycemia after one year of follow-up, whereas three others experienced a partial reduction in hypoglycemic episodes over six months.
One neonate underwent pancreatectomy despite receiving sirolimus.
The oldest participant with a mutation in the ABCC8 gene responded well to sirolimus therapy after surgery and remained asymptomatic for 18 months.
Conclusion.
This study suggested that sirolimus therapy needs further evaluation to determine which patients will benefit the most.
The genetic basis of CHI may have possible implications for determining the patient’s response.
American Psychological Association (APA)
Hashemian, Somayyeh& Jafarzadeh Esfehani, Reza& Karimdadi, Siroos& Vakili, Rahim& Zamanfar, Daniel& Sahebkar, Amirhossein. 2020. Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism. International Journal of Endocrinology،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1170461
Modern Language Association (MLA)
Hashemian, Somayyeh…[et al.]. Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism. International Journal of Endocrinology No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1170461
American Medical Association (AMA)
Hashemian, Somayyeh& Jafarzadeh Esfehani, Reza& Karimdadi, Siroos& Vakili, Rahim& Zamanfar, Daniel& Sahebkar, Amirhossein. Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism. International Journal of Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1170461
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1170461