Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
08 May 2024
08 May 2024
Historique:
received:
04
03
2024
accepted:
19
04
2024
medline:
9
5
2024
pubmed:
9
5
2024
entrez:
8
5
2024
Statut:
epublish
Résumé
Maturity Onset Diabetes of the Young (MODY) is a young-onset, monogenic form of diabetes without needing insulin treatment. Diagnostic testing is expensive. To aid decisions on who to test, we aimed to develop a MODY probability calculator for paediatric cases at the time of diabetes diagnosis, when the existing "MODY calculator" cannot be used. Firth logistic regression models were developed on data from 3541 paediatric patients from the Swedish 'Better Diabetes Diagnosis' (BDD) population study (n = 46 (1.3%) MODY (HNF1A, HNF4A, GCK)). Model performance was compared to using islet autoantibody testing. HbA1c, parent with diabetes, and absence of polyuria were significant independent predictors of MODY. The model showed excellent discrimination (c-statistic = 0.963) and calibrated well (Brier score = 0.01). MODY probability > 1.3% (ie. above background prevalence) had similar performance to being negative for all 3 antibodies (positive predictive value (PPV) = 10% v 11% respectively i.e. ~ 1 in 10 positive test rate). Probability > 1.3% and negative for 3 islet autoantibodies narrowed down to 4% of the cohort, and detected 96% of MODY cases (PPV = 31%). This MODY calculator for paediatric patients at time of diabetes diagnosis will help target genetic testing to those most likely to benefit, to get the right diagnosis.
Identifiants
pubmed: 38719926
doi: 10.1038/s41598-024-60160-0
pii: 10.1038/s41598-024-60160-0
doi:
Substances chimiques
HNF4A protein, human
0
Hepatocyte Nuclear Factor 4
0
Hepatocyte Nuclear Factor 1-alpha
0
HNF1A protein, human
0
Autoantibodies
0
Glycated Hemoglobin
0
MAP4K2 protein, human
0
Germinal Center Kinases
0
Glucokinase
EC 2.7.1.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
10589Subventions
Organisme : Diabetes UK
ID : 21/0006328
Pays : United Kingdom
Informations de copyright
© 2024. The Author(s).
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