Institute of Epidemiology and Medical Biometry, CAQM, Ulm University, Ulm, Germany.
Munich-Neuherberg, German Center for Diabetes Research (DZD), Munich, Germany.
J Diabetes. 2024 Nov;16(11):e70028. doi: 10.1111/1753-0407.70028.
Individuals with maturity-onset diabetes of the young (MODY) are often misdiagnosed as type 1 or type 2 diabetes and receive inappropriate care. We aimed to investigate the characteristics and treatment of all MODY types in a multicenter, real-world setting.
Individuals with MODY from the diabetes prospective follow-up (DPV) registry were studied. We compared clinical parameters during the first year of diabetes and the most recent treatment year after MODY diagnosis.
A total of 1640 individuals were identified with GCK-MODY (n = 941) and HNF1A-MODY (n = 417) as the most frequent types. Among these, 912 individuals were available with information during the first and the most recent treatment year (median duration of follow-up: 4.2 years [2.6-6.6]). Positive beta cell autoantibodies were present in 20.6% (15.2% IAA). Median age at diagnosis ranged from 9.9 years in GCK-MODY (Q1-Q3: 6.2-13.1 years) and INS-MODY (2.7-13.7 years) to 14.3 years (5.0-17.1) in KCNJ11-MODY. Frequency of oral antidiabetic agents (OAD) use increased and insulin decreased in HNF4A-MODY (OAD: 18% to 39%, insulin: 34% to 23%) and in HNF1A-MODY (OAD: 18% to 31%, insulin: 35% to 25%). ABCC8-MODY was characterized by a decrement in nonpharmacological treatment (26% to 16%) and "insulin only" treatment (53% to 42%), while the proportion of individuals treated with OAD but no insulin increased from 0% to 21%.
Our results indicate that some teams caring for individuals with MODY are hesitant with regard to current recommendations. Registries are an essential source of information and provide a basis for discussing treatment guidelines for MODY.
青年人成年发病型糖尿病（MODY）患者常被误诊为 1 型或 2 型糖尿病，并接受不恰当的治疗。本研究旨在多中心真实世界环境下，研究所有 MODY 类型的特征和治疗方法。
本研究纳入糖尿病前瞻性随访（DPV）登记处的 MODY 患者。我们比较了患者确诊 MODY 后第一年和最近治疗年的临床参数。
共纳入 1640 名 GCK-MODY（n=941）和 HNF1A-MODY（n=417）患者，这两种类型最为常见。其中，912 名患者在确诊 MODY 后的第一年和最近治疗年提供了信息（中位随访时间：4.2 年[2.6-6.6 年]）。20.6%（15.2%为胰岛细胞自身抗体阳性）患者存在β细胞自身抗体。GCK-MODY（Q1-Q3：6.2-13.1 岁）和 INS-MODY（2.7-13.7 岁）患者的诊断中位年龄均为 9.9 岁，而 KCNJ11-MODY 患者的诊断中位年龄为 14.3 岁（5.0-17.1 岁）。HNF4A-MODY（OAD：18%增至 39%，胰岛素：34%降至 23%）和 HNF1A-MODY（OAD：18%增至 31%，胰岛素：35%降至 25%）患者中，口服降糖药（OAD）的使用频率增加，胰岛素减少。ABCC8-MODY 患者的非药物治疗（26%降至 16%）和“仅胰岛素”治疗（53%降至 42%）减少，而 OAD 治疗但不使用胰岛素的患者比例从 0%增至 21%。
本研究结果表明，一些治疗 MODY 患者的团队对当前的建议犹豫不决。登记处是获取信息的重要来源，为讨论 MODY 治疗指南提供了依据。
