UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Portugal; Portuguese Association for CDG, Lisboa, Portugal; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Portugal.
Portuguese Association for CDG, Lisboa, Portugal; CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies - PPAIN), Portugal.
Mol Genet Metab. 2019 Jan;126(1):1-5. doi: 10.1016/j.ymgme.2018.11.003. Epub 2018 Nov 9.
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases that currently includes some 130 different types. CDG diagnosis is a challenge, not only because of this large number but also because of the huge clinical heterogeneity even within a number of CDG. In addition, the classical screening test, serum transferrin isoelectrofocusing, is only positive in about 60% of CDG, and can even become negative in some CDG particularly in PMM2-CDG, the most frequent N-glycosylation defect. In order to facilitate CDG diagnosis, we hereby provide some practical tools: (1) a list of clinical features strongly suggestive of a distinctive CDG; (2) a table of clinical, biochemical and laboratory findings reported in CDG, arranged per organ/system; (3) an overview of the affected organs/systems in each CDG; and (4) a diagnostic decision tree in face of a patient with a suspicion of CDG. Most important is to keep in mind a CDG in any unexplained syndrome, in particular when there is neurological involvement. This mini-review enumerates clinical and biochemical hallmarks of these diseases and the biochemical and genetic testing available, and provides an updated list and information on identified CDG. The main aim is to act as a CDG diagnosis simplified guide for healthcare professionals and, additionally, as an awareness and lobbying tool to help in the effectiveness and promptness of CDG diagnosis.
先天性糖基化障碍（CDG）是一组快速增长的遗传性疾病，目前包括约 130 种不同类型。CDG 的诊断具有挑战性，不仅因为数量庞大，还因为即使在一些 CDG 中也存在巨大的临床异质性。此外，经典的筛查试验，血清转铁蛋白等电聚焦，仅在约 60%的 CDG 中呈阳性，甚至在某些 CDG 中甚至会变为阴性，尤其是在最常见的 N-糖基化缺陷 PMM2-CDG 中。为了便于 CDG 的诊断，我们特此提供了一些实用工具：（1）一系列强烈提示独特 CDG 的临床特征；（2）按器官/系统排列的 CDG 中报告的临床、生化和实验室发现的表格；（3）每个 CDG 中受影响的器官/系统概述；（4）在怀疑 CDG 的患者中面临的诊断决策树。最重要的是要记住，任何无法解释的综合征中都可能存在 CDG，尤其是当存在神经系统受累时。这篇小型综述列举了这些疾病的临床和生化特征以及可用的生化和基因检测，并提供了最新的 CDG 列表和信息。主要目的是为医疗保健专业人员提供 CDG 诊断简化指南，并作为意识和游说工具，以帮助提高 CDG 诊断的有效性和及时性。
