Passanisi Stefano, Salzano Giuseppina, Bombaci Bruno, Lombardo Fortunato
Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124, Messina, Italy.
Diabetol Metab Syndr. 2021 Sep 8;13(1):96. doi: 10.1186/s13098-021-00716-6.
A retrospective observational study was conducted to assess the prevalence of maturity onset diabetes of the young (MODY) in a large paediatric population of Southern Italy newly diagnosed with diabetes. Clinical and genetic features of the identified MODY patients were also described.
Genetic testing was performed in children and adolescents newly diagnosed with diabetes who presented autoantibody negativity and fasting C-peptide levels ≥ 0.8 ng/mL. Patients with a low insulin daily dose and optimal glycaemic control after two years from diabetes onset were also investigated for monogenic diabetes, regardless of their autoimmunity status and/or C-peptide levels.
A prevalence of 6.5% of MODY was found. In particular, glucokinase-MODY was the most common type of MODY. The mean age at diagnosis was 9.1 years. Clinical presentation and biochemical data were heterogeneous also among patients belonging to the same MODY group.
We found a relatively high prevalence of MODY among paediatric patients with a new diagnosis of diabetes in comparison to literature data. Our findings highlight that a more detailed clinical evaluation along with easier and less expensive approachability to genetic testing may allow diagnosing an increasing number of MODY cases. A correct, prompt diagnosis is crucial to choose the most appropriate treatment and offer adequate genetic counselling.
开展了一项回顾性观察研究，以评估意大利南部大量新诊断糖尿病的儿科人群中青少年发病的成年型糖尿病（MODY）的患病率。还描述了确诊的MODY患者的临床和遗传特征。
对新诊断为糖尿病且自身抗体阴性、空腹C肽水平≥0.8 ng/mL的儿童和青少年进行基因检测。对糖尿病发病两年后每日胰岛素剂量低且血糖控制良好的患者也进行单基因糖尿病调查，无论其自身免疫状态和/或C肽水平如何。
发现MODY的患病率为6.5%。具体而言，葡萄糖激酶-MODY是最常见的MODY类型。诊断时的平均年龄为9.1岁。同一MODY组的患者之间，临床表现和生化数据也存在异质性。
与文献数据相比，我们发现新诊断糖尿病的儿科患者中MODY的患病率相对较高。我们的研究结果表明，更详细的临床评估以及更简便、成本更低的基因检测方法可能会使越来越多的MODY病例得到诊断。正确、及时的诊断对于选择最合适的治疗方法和提供充分的遗传咨询至关重要。
