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<p>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 <i>HNF1A</i> or <i>HNF4A</i> 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 <i>GCK</i>-MODY (formerly MODY2), <i>HNF1A</i>-MODY (MODY3), and <i>HNF4A</i>-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.</p>

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Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins)

  • 期刊论文

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  • 发表日期：

    2026年3月31日

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  • Danièle Dubois-Laforgue,
  • Bruno Donadille,
  • Cécile Ciangura ,
  • Chloé Amouyal,
  • Jean-Baptiste Arnoux,
  • Pascal Barat,
  • Sabine Baron,
  • Jacques Beltrand,
  • Elise Bismuth,
  • Clara Bouché,
  • Jean-Claude Carel,
  • Hélène Cavé,
  • Sophie Christin-Maitre,
  • Delphine Collin-Chavagnac,
  • Christiane Damgé,
  • Brigitte Delemer,
  • Pierre Gourdy ,
  • Sophie Jacqueminet,
  • Sonja Janmaat ,
  • Marc de Kerdanet,
  • Laurence Kessler,
  • Dominique Langin ,
  • Jean-Charles Nault,
  • Jacky Nizard,
  • Michel Polak ,
  • Rachel Reynaud,
  • Cécile Saint-Martin,
  • Igor Tauveron,
  • René Valéro,
  • Anne Vambergue,
  • Marie-Christine Vantyghem,
  • Camille Vatier,
  • Marc Nicolino,
  • Christine Bellanné-Chantelot,
  • Corinne Vigouroux

摘要

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.