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Article Dans Une Revue (Article De Synthèse) Diabetologia Année : 2022

Where to for precision treatment of HNF1A-MODY?

Résumé

Maturity-onset diabetes of the young (MODY) represents an autosomal dominant genetic form of diabetes, coined by Tattersall and Fajans in 1974 as having one or more variations in a single gene [1, 2]. MODY is initially characterised by fasting hyperglycaemia, often diagnosed in children or young adults [2, 3]. Currently, MODY accounts for 1–5% of all individuals with diabetes [4], and at least 14 distinct subtypes have been reported to date [5, 6]. Heterozygous mutations in the gene encoding hepatocyte nuclear factor 1-alpha (HNF1A) cause the most common form of monogenic diabetes, known as HNF1A-MODY [7]. This form of MODY is highly prevalent in populations with European ancestry (>70%) and is more frequent than previously thought. Approximately 95% of individuals with HNF1A-MODY are misdiagnosed as either type 1 diabetes or type 2 diabetes, thus revealing a lack of physician awareness and/or access to genetic testing [8]. Early diagnosis is critical since HNF1A-MODY affects 50% of children born to a mutation carrier, and penetrance is often above 90%, such that three or more generations are usually affected [9].

Dates et versions

hal-04617270 , version 1 (19-06-2024)

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Citer

Caroline Bonner, Chiara Saponaro. Where to for precision treatment of HNF1A-MODY?. Diabetologia, 2022, Diabetologia, 65 (11), pp.1825-1829. ⟨10.1007/s00125-022-05696-4⟩. ⟨hal-04617270⟩
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