The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene
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Xiao Qin
Abstract
Objectives
Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.
Case presentation
We report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.
Conclusions
This report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.
Acknowledgment
The authors would like to thank Dr. Dev Sooranna, Imperial CollegeLondon, for editing the manuscript.
Research funding: None declared.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
Informed consent: Informed consent was obtained from the parents of all patients included in this paper.
Ethical Approval: The research related to human use complied with all the relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration, and has been approved by the authors’ Institutional Review Board or equivalent committee.
References
1. Iafusco, D, Massa, O, Pasquino, B, Colombo, C, Iughetti, L, Bizzarri, C, et al.. Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births. Acta Diabetol 2012;49:405–8. https://doi.org/10.1007/s00592-011-0331-8.Search in Google Scholar PubMed PubMed Central
2. Edghill, EL, Flanagan, SE, Ellard, S. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord 2010;11:193–8. https://doi.org/10.1007/s11154-010-9149-x.Search in Google Scholar PubMed
3. Lemelman, MB, Letourneau, L, Greeley, SAW. Neonatal diabetes mellitus. Clin Perinatol 2018;45:41–59. https://doi.org/10.1016/j.clp.2017.10.006.Search in Google Scholar PubMed PubMed Central
4. Babiker, T, Vedovato, N, Patel, K, Thomas, N, Finn, R, Mannikko, R, et al.. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia 2016;59:1162–6. https://doi.org/10.1007/s00125-016-3921-8.Search in Google Scholar PubMed PubMed Central
5. Patch, AM, Flanagan, SE, Boustred, C, Hattersley, AT, Ellard, S. Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes Metabol 2007;9:28–39. https://doi.org/10.1111/j.1463-1326.2007.00772.x.Search in Google Scholar PubMed PubMed Central
6. Day, JO, Flanagan, SE, Shepherd, MH, Patrick, AW, Abid, N, Torrens, L, et al.. Hyperglycaemia‐related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabet Med 2017;34:1000–4. https://doi.org/10.1111/dme.13328.Search in Google Scholar PubMed PubMed Central
7. Ortiz, D, Bryan, J. Neonatal diabetes and congenital hyperinsulinism caused by mutations in ABCC8/SUR1 are associated with altered and opposite affinities for ATP and ADP. Front Endocrinol 2015;6:48. https://doi.org/10.3389/fendo.2015.00048.Search in Google Scholar PubMed PubMed Central
8. Balamurugan, K, Kavitha, B, Yang, Z, Mohan, V, Radha, V, Shyng, SL. Functional characterization of activating mutations in the sulfonylurea receptor 1 (ABCC8) causing neonatal diabetes mellitus in Asian Indian children. Pediatr Diabetes 2019;20:397–407. https://doi.org/10.1111/pedi.12843.Search in Google Scholar PubMed
9. Proks, P, Arnold, AL, Bruining, J, Girard, C, Flanagan, SE, Larkin, B, et al.. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet 2006;15:1793–800. https://doi.org/10.1093/hmg/ddl101.Search in Google Scholar PubMed
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Articles in the same Issue
- Frontmatter
- Review Article
- Papillary thyroid carcinoma in children with Hashimoto’s thyroiditis – a review of the literature between 2000 and 2020
- Original Articles
- Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria
- Evolution of Hashimoto thyroiditis in children with type 1 diabetes mellitus (TIDM)
- Glycated hemoglobin variability and microvascular complications in patients with type 1 diabetes mellitus
- Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea
- Can we use copeptin as a biomarker for masked hypertension or metabolic syndrome in obese children and adolescents?
- Relationship of acanthosis nigricans with metabolic syndrome in obese children
- Daily intake of macronutrients and energy in childhood and its association with cardiometabolic risk factors in Colombians
- The effect of treatment with recombinant human growth hormone (rhGH) on linear growth and adult height in children with idiopathic short stature (ISS): a systematic review and meta-analysis
- Growth in achondroplasia, from birth to adulthood, analysed by the JPA-2 model
- Short Communication
- Assessing disparities in barriers to attending pediatric diabetes camp
- Letter to the Editor
- Severity in pediatric type 1 diabetes mellitus debut during the COVID-19 pandemic
- Case Reports
- The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene
- Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with CUL7 gene mutation
- A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency
- Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?
