Péanne Romain, de Lonlay Pascale, Foulquier François, Kornak Uwe, Lefeber Dirk J, Morava Eva, Pérez Belén, Seta Nathalie, Thiel Christian, Van Schaftingen Emile, Matthijs Gert, Jaeken Jaak
Center for Human Genetics, KU Leuven, Leuven, Belgium; LIA GLYCOLAB4CDG France/Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation - from cellular mechanisms to cure", France.
APHP, Hôpital Necker Enfants Malades, Service et Centre de Référence des Maladies Métaboliques, Université Paris Descartes, Institut Imagine, Paris, France.
Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25.
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG. Epigenetic defects are expected to join the rapidly expanding genetic and allelic heterogeneity of the CDG family. Novel treatments are urgently needed particularly for PMM2-CDG, the most prevalent CDG. Patient services such as apps should be developed e.g. to document the natural history and monitor treatment. Networking (EURO-CDG, the European Reference Networks (MetabERN)) is an efficient tool to disseminate knowledge and boost collaboration at all levels. The final goal is of course to improve the quality of life of the patients and their families.
该调查在第一部分总结了先天性糖基化障碍（CDG）在表型谱、诊断和治疗策略以及病理生理学方面的当前知识状况。它记录了临床和基础研究活动，以及让患者及其家庭参与的努力。在第二部分，它试图展望CDG的未来。快速诊断和治疗监测需要更特异的生物标志物。全基因组测序将在未解决的CDG分子诊断中发挥越来越重要的作用。预计表观遗传缺陷将加入CDG家族迅速扩大的遗传和等位基因异质性中。尤其对于最常见的CDG即PMM2 - CDG，迫切需要新的治疗方法。应开发诸如应用程序之类的患者服务，例如记录自然病史和监测治疗。建立网络（欧洲CDG、欧洲参考网络（代谢ERN））是在各个层面传播知识和促进合作的有效工具。当然，最终目标是改善患者及其家庭的生活质量。
