Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset

Carrera, Paola; Marzinotto, Ilaria; Bonfanti, Riccardo; Massimino, Luca; Calzavara, Silvia; Favellato, Mariagrazia; Jofra, Tatiana; Giglio, Valeria De; Bonura, Clara; Stabilini, Angela; Favalli, Valeria; Bondesan, Simone; Cicalese, Maria Pia; Laurenzi, Andrea; Caretto, Amelia; Frontino, Giulio; Rigamonti, Andrea; Molinari, Chiara; Scavini, Marina; Sandullo, Federica; Zapparoli, Ettore; Caridi, Nicoletta; Bonfiglio, Silvia; Castorani, Valeria; Ungaro, Federica; Petrelli, Alessandra; Barera, Graziano; Aiuti, Alessandro; Bosi, Emanuele; Battaglia, Manuela; Piemonti, Lorenzo; Lampasona, Vito; Fousteri, Georgia

doi:10.1007/s00125-022-05865-5

Cited by 1 publication

(1 citation statement)

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“…The absence of anti-islet cell autoantibodies and residual C-peptide secretion were the two markers already known to target patients with atypical diabetes. Of note, several studies have previously recommended genetic analysis in all T1DM diagnosed patients that present no anti-islet cell autoantibodies at diagnosis [28][29][30].…”

Section: Discussionmentioning

confidence: 99%

A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms

Welsch,

Harvengt,

Gallo

et al. 2024

Diabetes Metab J

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Background: Recent diabetes subclassifications have improved the differentiation between patients with type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus despite several overlapping features, yet without considering genetic forms of diabetes. We sought to facilitate the identification of monogenic diabetes by creating a new tool that we validated in a pediatric maturity-onset diabetes of the young (MODY) cohort. Methods: We first created the DIAgnose MOnogenic DIAbetes (DIAMODIA) criteria based on the pre-existing, but incomplete, MODY calculator. This new score is composed of four strong and five weak criteria, with patients having to display at least one weak and one strong criterion. Results: The effectiveness of the DIAMODIA criteria was evaluated in two patient cohorts, the first consisting of patients with confirmed MODY diabetes (n=34) and the second of patients with T1DM (n=390). These DIAMODIA criteria successfully detected 100% of MODY patients. Multiple correspondence analysis performed on the MODY and T1DM cohorts enabled us to differentiate MODY patients from T1DM. The three most relevant variables to distinguish a MODY from T1DM profile were: lower insulin-dose adjusted A1c score ≤9, glycemic target-adjusted A1c score ≤4.5, and absence of three anti-islet cell autoantibodies. Conclusion:We validated the DIAMODIA criteria, as it effectively identified all monogenic diabetes patients (MODY cohort) and succeeded to differentiate T1DM from MODY patients. The creation of this new and effective tool is likely to facilitate the characterization and therapeutic management of patients with atypical diabetes, and promptly referring them for genetic testing which would markedly improve clinical care and counseling, as well.

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Section: Discussionmentioning

confidence: 99%