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Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt
Yasmine Abdelmeguid1, Ehsan Wafa Mowafy1, Iman Marzouk1
1Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Insights
Infantile-onset diabetes can be classified into type 1 diabetes mellitus (T1DM) or monogenic diabetes of infancy (NDM). Genetic testing confirmed NDM in 23.1% of patients, with novel mutations identified, guiding tailored treatment and genetic counseling.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Infantile-onset diabetes mellitus (DM) before 12 months of age is increasingly linked to single-gene mutations, termed monogenic diabetes of infancy (NDM).
- Distinguishing NDM from type 1 DM (T1DM) is crucial for appropriate management and prognosis.
Purpose of the Study:
- To classify infantile-onset DM patients at Alexandria University Children's Hospital (AUCH) into T1DM or NDM.
- To identify molecular characteristics of NDM patients and compare them internationally.
Main Methods:
- A retrospective/prospective observational study of 39 patients with infantile-onset DM (onset ≤1 year) from 2003-2020.
- Patients were grouped by onset age: ≤6 months and >6-12 months.
- Molecular testing was performed on patients with DM onset ≤6 months and those with negative autoantibodies.
Main Results:
- Out of 39 patients, 17 (43.6%) had T1DM and 9 (23.1%) had genetically confirmed NDM.
- The most frequent NDM genetic causes were EIF2AK3 (n=3), KCNJ11 (n=2), and ABCC8 (n=2) mutations; 3 novel mutations were found.
- Three patients with KCNJ11/ABCC8 mutations transitioned from insulin to sulfonylurea therapy.
Conclusions:
- Clinical identification and molecular confirmation of NDM are essential to differentiate it from T1DM.
- Accurate diagnosis of NDM aids in refining patient management, predicting disease course, and providing genetic counseling.
Purpose:
In patients diagnosed with diabetes mellitus (DM) before the age of 12 months, there is an increasing recognition of diabetes caused by single-gene mutations, also known as monogenic diabetes of infancy or neonatal DM (NDM). This study aimed to classify patients at Alexandria University Children's Hospital (AUCH) diagnosed with infantile-onset DM into type 1 DM (T1DM) or NDM 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 on 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 age at the onset of DM: ≤6 months and >6-12 months. Molecular testing was done in patients diagnosed with DM at ≤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 sulfonylurea treatment.
Conclusion:
It is essential to identify patients with NDM clinically and confirm the diagnosis by molecular testing to distinguish them from T1DM as it helps in refining their management, predicting prognosis, and guiding genetic counseling.
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