Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience

Background A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy newly diagnosed with diabetes. Clinical and genetic features of the identified MODY patients were also described. Me...

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Published in:Diabetology and metabolic syndrome 2021-09, Vol.13 (1), p.1-96, Article 96
Main Authors: Passanisi, Stefano, Salzano, Giuseppina, Bombaci, Bruno, Lombardo, Fortunato
Format: Article
Language:English
Subjects:
Age
Antigens
Autoantibodies
Autoimmunity
C-peptide
Children
Clinical medicine
Diabetes
Diabetes mellitus
Diabetes therapy
Diagnosis
Fasting
Genes
Genetic aspects
Genetic counseling
Genetic research
Genetic screening
Genetic testing
Genomics
Glucokinase
Glucose
Health aspects
Hyperglycemia
Insulin
Insulin resistance
Isoenzymes
Medical diagnosis
Medical genetics
MODY
Mutation
Patients
Pediatrics
Peptides
Siblings
Sulfonylureas
Type 2 diabetes
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Summary:Background A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy newly diagnosed with diabetes. Clinical and genetic features of the identified MODY patients were also described. Methods Genetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels [greater than or equai to] 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels. Results A prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group. Conclusions We found a relatively high prevalence of MODY among paediatric patients with a new diagnosis of diabetes in comparison to literature data. Our findings highlight that a more detailed clinical evaluation along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling. Keywords: C-peptide, Diagnosis, Genetic testing, Glucokinase, MODY, Sulfonylureas
ISSN:1758-5996
1758-5996
DOI:10.1186/s13098-021-00716-6