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.
The relationship between household tobacco smoke exposure and wheezing and nonwheezing lower respiratory tract illnesses in young children was investigated using both a questionnaire and the urinary cotinine/creatinine ratio to assess passive smoking. A case-control study was conducted on 60 children
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