年轻人成熟期糖尿病（MODY）：法国国家诊断和护理方案（PNDS，国家诊断和治疗方案）
Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).
摘要(中文译文)
青少年发病的成人型糖尿病（MODY）以常染色体显性遗传、无针对胰腺β细胞的自身免疫的早发糖尿病、胰岛素分泌能力受损但随时间推移得以维持，以及部分患者出现胰腺外表现为特征。据估计，其在欧洲和美国占所有糖尿病的0.6%至6.5%。编码葡萄糖激酶或转录因子HNF1A或HNF4A的基因中的致病变异是大多数被称为MODY的单基因型糖尿病病例的原因。法国国家诊断与照护方案（PNDS，Protocole National de Diagnostic et de Soins）专门针对GCK-MODY（原MODY2）、HNF1A-MODY（MODY3）和HNF4A-MODY（MODY1），其目标是在批判性文献综述和多学科专家共识的基础上，为卫生专业人员提供患者最佳管理和照护的指南。该PNDS由法国国家罕见胰岛素分泌与胰岛素敏感性疾病参考中心（PRISIS）成员编写，可在法国卫生管理局网站上查阅（法文版）。对个人史和家族史的全面分析、临床检查以及生化检测是提高诊断率的关键，诊断须通过分子分析予以确认。主治医师应与国家照护网络协作，通过定期随访和筛查确保患者获得最佳照护。总体而言，MODY患者的管理需要多名卫生保健提供者的协作。
Abstract
MODY (Maturity-Onset Diabetes of the Young) is characterized by autosomal dominant mode of inheritance, early onset of diabetes in the absence of autoimmunity directed to pancreatic β-cells, impaired insulin secretory capacity, however, maintained over time, and extra-pancreatic manifestations in some patients. Its prevalence has been estimated 0.6% to 6.5% of all diabetes in Europe and the USA. Pathogenic variants in the genes encoding glucokinase or transcription factors HNF1A or HNF4A are responsible for the majority of cases of monogenic forms of diabetes referred to as MODY. The objective of the French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins) dedicated to GCK-MODY (formerly MODY2), HNF1A-MODY (MODY3), and HNF4A-MODY (MODY1) is to provide to health professionals a guide for optimal management and care of patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), is available on the French Health Authority website (in French). Thorough analysis of personal and family history, clinical examination and biochemical testing are key to raise the diagnosis, which has to be confirmed by molecular analysis. The attending physician, in conjunction with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. Overall, the management of patients with MODY requires the collaboration of several health care providers.
如何引用
AMA
Danièle Dubois-Laforgue, Bruno Donadille, Cécile Ciangura, Chloé Amouyal, Jean-Baptiste Arnoux, Pascal Barat, et al. Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).. Orphanet journal of rare diseases. 2026; doi:10.1186/s13023-026-04272-y.
APA
Danièle Dubois-Laforgue, Bruno Donadille, Cécile Ciangura, Chloé Amouyal, Jean-Baptiste Arnoux, Pascal Barat, et al (2026). Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).. Orphanet journal of rare diseases. https://doi.org/10.1186/s13023-026-04272-y
GB/T 7714
Danièle Dubois-Laforgue, Bruno Donadille, Cécile Ciangura, Chloé Amouyal, Jean-Baptiste Arnoux, Pascal Barat, et al. Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins).[J]. Orphanet journal of rare diseases, 2026 doi:10.1186/s13023-026-04272-y.
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