Document Type : Case Report
Authors
1
Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2
Department of Pediatrics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3
Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
4
Metabolic Disorders Research Center, Endocrinology and Metabolism Mulecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
Abstract
Background: Neonatal diabetes mellitus (NDM) is a severe type of glucose metabolism disorder that appears in the first months of life and mostly presents with symptoms such as dehydration, inability to gain weight, and in extreme cases, ketoacidosis and coma. Strong evidence shows the benefits of early molecular tests that investigate variability in kATP channels such as KCNJ11, ABCC8, INS gene mutations, and 6q24 abnormalities. In the presence of these genomics changes, switching from Insulin treatment toward high-dose oral sulfonylurea can enhance the course of treatment, prognosis, and quality of life.
Case Report: In this study, we report four cases of neonatal diabetes with different symptoms who were referred to Shahid Sadoughi Medical Center in Yazd, Iran.
Conclusion: The diagnosis and treatment of NDM is a good model for implementing patient-centered and personalized medicine. For all patients with diabetes diagnosed before the 6th month of their age (even the 12th month), genetic testing should be considered.
Keywords
Corresponding Author: Amir Hossein Khosravinejad
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