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Diabete di tipo 1 con anticorpi negativi: quando è importante cercare un'altra diagnosi
Type 1 diabetes with negative antibodies: when it is important to look for an alternative diagnosis
Chiara Gulisano, Camilla Marazzi, Marta Bassi, Giacomo Tantari, Giuseppe d’Annunzio, Nicola Minuto
Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili (DiNOGMI),
Università di Genova, IRCCS “Giannina Gaslini”
Ottobre 2024 | DOI: 10.53126/MEBXXVIIO148
Abstract
A 15-year-old girl presented with diabetes mellitus without ketoacidosis, initially treated as type 1 diabetes (T1DM). Despite a family history of diabetes, the patient showed reduced insulin requirements (0.3 U/kg/day) and tested negative for autoantibodies associated with T1DM. Following ISPAD guidelines, genetic testing was performed, revealing a heterozygous mutation in the HNF4α gene, associated with MODY 1 (Maturity-Onset Diabetes of the Young). The patient maintained good glycemic control with insulin therapy, but the case raises questions about the timing and approach to transitioning to sulfonylureas, the first-line treatment for MODY 1, which could potentially improve glycemic control and the quality of life.
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