Pediatrics Unit, Institute for Experimental and Clinical Research, UCLouvain, Brussels, Belgium.
Pediatric Endocrinology Unit, Saint-Luc University Clinics, Brussels, Belgium.
Diabetes Metab J. 2024 Sep;48(5):949-959. doi: 10.4093/dmj.2023.0166. Epub 2024 Mar 22.
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.
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.
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.
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.
尽管 1 型糖尿病（T1DM）和 2 型糖尿病患者有一些重叠的特征，但最近的糖尿病亚分类方法提高了两者之间的区分度，不过还没有考虑到糖尿病的遗传形式。我们试图通过创建一个新的工具来促进单基因糖尿病的识别，并在儿科青少年发病的成年型糖尿病（MODY）队列中对其进行验证。
我们首先基于现有的、但不完整的 MODY 计算器创建了 DIAgnose MOnogenic DIAbetes（DIAMODIA）标准。这个新的评分由四个强标准和五个弱标准组成，患者必须至少显示一个弱标准和一个强标准。
我们在两个患者队列中评估了 DIAMODIA 标准的有效性，第一个队列由确诊的 MODY 糖尿病患者（n=34）组成，第二个队列由 T1DM 患者（n=390）组成。这些 DIAMODIA 标准成功地检测到了 100%的 MODY 患者。对 MODY 和 T1DM 队列进行多元对应分析，使我们能够区分 MODY 患者和 T1DM 患者。用于区分 MODY 和 T1DM 特征的三个最相关的变量是：较低的胰岛素剂量调整后的 A1c 评分≤9、血糖目标调整后的 A1c 评分≤4.5 和缺乏三种胰岛细胞自身抗体。
我们验证了 DIAMODIA 标准，因为它有效地识别了所有单基因糖尿病患者（MODY 队列），并成功地区分了 T1DM 和 MODY 患者。创建这个新的有效工具可能有助于对非典型糖尿病患者的特征和治疗管理，并及时进行基因检测，这将显著改善临床护理和咨询。
