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Genetic Factors of Diabetes
Karolina Antosik1, Maciej Borowiec2
1Department of Clinical Genetics, Medical University of Lodz, Pomorska 251, 92-213, Lodz, Poland.
Insights
Monogenic diabetes, a rare genetic condition affecting pancreatic beta-cells, requires early diagnosis in children. Prompt identification enables optimal treatment, improving metabolic control and patient quality of life.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- Monogenic diabetes results from pancreatic beta-cell dysfunction.
- It is a rare genetic disorder primarily diagnosed in pediatric patients.
- Key subtypes include maturity onset diabetes of the young and permanent neonatal diabetes mellitus.
Purpose of the Study:
- To highlight the significance of early and accurate diagnosis of monogenic diabetes in children.
- To emphasize the benefits of timely diagnosis on patient outcomes.
Main Methods:
- This study is a review of existing literature on monogenic diabetes.
- Diagnostic criteria and genetic testing approaches are discussed.
Main Results:
- Early diagnosis facilitates the implementation of tailored treatment strategies.
- Improved metabolic control and reduced long-term complications are observed with timely intervention.
Conclusions:
- Accurate diagnosis of monogenic diabetes is crucial for pediatric patients.
- Optimal management significantly enhances quality of life and ameliorates associated disabilities.
Abstract:
Monogenic diabetes is a rare genetic type of diabetes caused by pancreatic β-cells dysfunction. All subtypes of monogenic diabetes are recognized in the pediatric population. They include maturity onset diabetes of the young, permanent neonatal diabetes mellitus and rare syndromic forms of diabetes. An early and proper diagnosis allows to implement an optimal treatment, leads to improved metabolic control and amelioration of related disabilities as well as increases the quality of life of the patients.
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