MODY calculator applied in patients with clinical diagnosis of type 1 diabetes mellitus: Is a higher cutoff needed?

Autor:	Peghinelli VV; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., De Sibio MT; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Depra IC; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Teles Bezerra MG; Grupo de Diabetes Monogênico (Monogenic Diabetes Group), Unidade de Endocrinologia, Genética (LIM25), Unidade de Diabetes, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (HCFMUSP), São Paulo, SP, 01246-903, Brazil., Sakalem ME; Departament of Anatomy, State University of Londrina - UEL, Londrina, PR, Brazil., Júnior AFM; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., da Rocha PB; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Tilli HP; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Gonçalves BM; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Vieira EM; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Lourenço MM; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil., Nogueira CR; Departament of Internal Medicine, São Paulo State University (UNESP), Medical School, Botucatu, Sao Paulo, Brazil.
Jazyk:	angličtina
Zdroj:	Heliyon [Heliyon] 2024 Aug 08; Vol. 10 (16), pp. e36006. Date of Electronic Publication: 2024 Aug 08 (Print Publication: 2024).
DOI:	10.1016/j.heliyon.2024.e36006
Abstrakt:	Aim: This study aimed to evaluate the mean post-test probability (PTP) of the Maturity-onset diabetes of the young (MODY) calculator in a multiethnic cohort of patients previously diagnosed with type 1 diabetes (T1DM). Materials and Methods: The MODY probability calculator proposed by Shields and colleagues (2012) was applied to 117 patients from a T1DM outpatient clinic at a tertiary hospital in Brazil. Additionally, two exons of the HNF1A gene were sequenced in eight patients who hadn't received insulin treatment within six months after the diagnosis. Results: 17.1 % of patients achieved PTP >10 %; 11.1 % achieved PTP >25 % (and all patients >30 %), and 7.7 % achieved PTP >40 %. Among the patients who were selected for genetic sequencing, 100 % presented PTP >30 %, with 66.6 % achieving PTP >40 % and 41.6 % achieving PTP >75 %. These cutoffs are as suggested for the Brazilian population, according to previous investigations. No mutation was observed in the sequenced exons. Conclusion: Considering that only around 10 % of the evaluated cases achieved PTP >30 %, it is highly probable that the most suitable cutoff to select patients for genetic sequencing in a Brazilian cohort of T1DM is higher than the cutoff used in Caucasian populations. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 The Authors.)
Databáze:	MEDLINE
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