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An international classification of inherited metabolic disorders (ICIMD)
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-12-19 , DOI: 10.1002/jimd.12348
Carlos R Ferreira 1 , Shamima Rahman 2, 3 , Markus Keller 4 , Johannes Zschocke 4 ,
Affiliation  

Several initiatives at establishing a classification of inherited metabolic disorders have been published previously, some focusing on pathomechanisms, others on clinical manifestations, while yet another attempted a simplified approach of a comprehensive nosology. Some of these classifications suffered from shortcomings, such as lack of a mechanism for continuous update in light of a rapidly evolving field, or lack of widespread input from the metabolic community at large. Our classification—the International Classification of Inherited Metabolic Disorders, or International Classification of Inborn Metabolic Disorders (ICIMD)—includes 1450 disorders, and differs from prior approaches in that it benefited from input by a large number of experts in the field, and was endorsed by major metabolic societies around the globe. Several criteria such as pathway involvement and pathomechanisms were considered. The main purpose of the hierarchical, group‐based approach of the ICIMD is an improved understanding of the interconnections between many individual conditions that may share functional, clinical, and diagnostic features. The ICIMD aims to include any primary genetic condition in which alteration of a biochemical pathway is intrinsic to specific biochemical, clinical, and/or pathophysiological features. As new disorders are discovered, we will seek the opinion of experts in the advisory board prior to inclusion in the appropriate group of the ICIMD, thus guaranteeing the continuing relevance of this classification via regular curation and expert advice.

中文翻译:

遗传性代谢紊乱的国际分类(ICIMD)

之前已经发表了一些建立遗传代谢疾病分类的倡议,一些侧重于病理机制,另一些侧重于临床表现,而另一项则尝试了一种简化的综合疾病分类方法。其中一些分类存在缺陷,例如缺乏针对快速发展的领域的持续更新机制,或者缺乏来自整个代谢社区的广泛投入。我们的分类——遗传性代谢疾病的国际分类,或先天性代谢疾病的国际分类 (ICIMD)——包括 1450 种疾病,与以前的方法不同,它受益于该领域大量专家的投入,并得到了认可由全球主要的代谢学会。考虑了几个标准,例如通路参与和病理机制。ICIMD 分层、基于组的方法的主要目的是更好地理解许多可能共享功能、临床和诊断特征的个体条件之间的相互联系。ICIMD 旨在包括任何原发性遗传病,其中生化途径的改变是特定生化、临床和/或病理生理学特征所固有的。随着新疾病的发现,我们将在加入 ICIMD 的适当小组之前征求咨询委员会专家的意见,从而通过定期管理和专家建议来保证该分类的持续相关性。ICIMD 的基于组的方法是对许多可能共享功能、临床和诊断特征的个体条件之间的相互联系的更好理解。ICIMD 旨在包括任何原发性遗传病,其中生化途径的改变是特定生化、临床和/或病理生理学特征所固有的。随着新疾病的发现,我们将在加入 ICIMD 的适当小组之前征求咨询委员会专家的意见,从而通过定期管理和专家建议来保证该分类的持续相关性。ICIMD 的基于组的方法是对许多可能共享功能、临床和诊断特征的个体条件之间的相互联系的更好理解。ICIMD 旨在包括任何原发性遗传病,其中生化途径的改变是特定生化、临床和/或病理生理学特征所固有的。随着新疾病的发现,我们将在加入 ICIMD 的适当小组之前征求咨询委员会专家的意见,从而通过定期管理和专家建议来保证该分类的持续相关性。ICIMD 旨在包括任何原发性遗传病,其中生化途径的改变是特定生化、临床和/或病理生理学特征所固有的。随着新疾病的发现,我们将在加入 ICIMD 的适当小组之前征求咨询委员会专家的意见,从而通过定期管理和专家建议来保证该分类的持续相关性。ICIMD 旨在包括任何原发性遗传病,其中生化途径的改变是特定生化、临床和/或病理生理学特征所固有的。随着新疾病的发现,我们将在加入 ICIMD 的适当小组之前征求咨询委员会专家的意见,从而通过定期管理和专家建议来保证该分类的持续相关性。
更新日期:2021-01-27
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