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Il MODY: genetica e quadri clinici associati

MODY: Clinical and genetic features

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L'Endocrinologo Aims and scope

Sommario

Il diabete giovanile a insorgenza nell’adulto (MODY) è un gruppo eterogeneo di malattie monogeniche, generalmente associate a un difetto secretorio delle cellule beta pancreatiche. Classicamente descritto come una sindrome clinica di diabete autosomico dominante a esordio precoce, è oggi noto che il MODY si presenta in diverse sindromi distinte, in relazione ai determinanti genetici, all’espressione clinica e alla risposta terapeutica. Questo articolo fornisce un’analisi dei sottotipi più comuni di MODY, del loro inquadramento diagnostico e propone un avanzato e appropriato approccio terapeutico.

Abstract

Maturity onset diabetes of the young (MODY) is a rare form of diabetes which is different from both type 1 and type 2 diabetes and it is caused by a mutation (or change) in a single gene. MODY is characterised by onset before 30 years of age, absence of \(\beta \)-cell autoimmunity, sustained pancreatic \(\beta \)-cell function and autosomal dominant inheritance. To date, mutations have been identified in at least 14 different genes. Due to the heterogeneity of clinical features, patients with MODY may be misdiagnosed as possessing another form of diabetes. In this review, we highlight the importance of clinical presentation for testing, the diagnostic tools based on currently available genetic tests and the treatment options.

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  1. U.O. Endocrinologia, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia

    Veronica Resi & Valeria Grancini

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Correspondence to Veronica Resi.

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Proposto da G. Mantovani.

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Resi, V., Grancini, V. Il MODY: genetica e quadri clinici associati. L'Endocrinologo 24, 512–518 (2023). https://doi.org/10.1007/s40619-023-01353-z

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