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Ann Pediatr Endocrinol Metab > Accepted Articles
DOI: https://doi.org/10.6065/apem.2142184.092    [Accepted] Published online January 26, 2022.
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt
Yasmine Abdelmeguid1  , Ehsan Wafa Mowafy1, Iman Marzouk1, Elisa De Franco2, Shaymaa ElSayed1
1Faculty of Medicine, Alexandria University, Alexandria, Egypt
2University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, UK
Address for correspondence:  Yasmine Abdelmeguid
Email: y_abdelmeguid17@alexmed.edu.eg
Received: September 8, 2021   Revised: December 17, 2021   Accepted: December 17, 2021
Abstract
Purpose
Amongst patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single gene mutations; which is also known as monogenic diabetes of infancy or neonatal diabetes mellitus (NDM). The aim of this study was to classify patients at Alexandria University Children’s Hospital (AUCH) diagnosed with infantile-onset DM into type 1 DM (T1DM) and NDM categories, and to detect differences in molecular characteristics of NDM patients at our center in comparison to other countries.
Methods
This retrospective/prospective observational study was conducted in 39 patients diagnosed with infantile-onset DM (age of onset ≤1 year) at AUCH from January 2003 to November 2020. The patients were divided into 2 groups according to the age of onset of DM: ≤6 months and >6-12 months. Molecular testing was done in patients diagnosed with DM ≤6 months and those with negative autoantibodies.
Results
Twelve patients were diagnosed with DM at age ≤ 6 months and 27 patients were diagnosed between 6-12 months. Seventeen patients (43.6%) had T1DM, whereas 9 patients (23.1%) had genetically confirmed NDM, including 3 harboring novel mutations. The most common genetic causes of NDM were EIF2AK3 mutations (n=3), followed by KCNJ11 (n=2), and ABCC8 (n=2). Other mutations included SLC19A2 (n=1), and INS (n=1). Three patients with potassium ATP channel mutations were transferred from insulin to sulphonylurea treatment.
Conclusion
Identifying patients with NDM clinically and confirming the diagnosis by molecular testing to distinguish them from T1DM is essential as it helps in refining their management, predicting prognosis, and guiding genetic counseling.
Keywords: Infantile-onset diabetes; Neonatal diabetes mellitus; Monogenic diabetes of infancy; Potassium ATP channel; Sulphonylurea; Wolcott-Rallison syndrome


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