Institute for Genetic Metabolic and Endocrine Disease and Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Curr Opin Pediatr. 2011 Dec;23(6):581-7. doi: 10.1097/MOP.0b013e32834cd693.
Congenital disorders of glycosylation (CDG) have grown enormously since the discovery of the first protein glycosylation defect in 1980, presenting with a broad clinical spectrum. Expansion in number and complexity of the CDG group has even necessitated a new nomenclature. By 2011, the CDG group includes lipid glycosylation disorders and other related processes and almost 50 distinct disorders.
Current research has not only expanded the spectrum of CDG types, but has also given novel insight into those previously described. The discovery of genetic defects in the conserved oligomeric Golgi complex, affecting protein glycosylation and processing through the secretory pathway, raised the concept of 'secondary' glycosylation disorders. The number of lipid glycosylation disorders, linking lipid synthesis to CDG, that were previously regarded as rare, is also increasing rapidly. In other areas of research, the bridge between muscular dystrophies and metabolic disorders is being further reinforced with the discovery of additional defects in the DPM-CDG subgroup, a CDG characterized by significant muscle involvement.
It is of great importance that clinicians stay up-to-date on the field of CDG and consider it in their differential diagnosis of unknown syndromal presentations. Nevertheless, many advances have yet to be made, including information on the natural course of CDG. The lack of treatment for nearly all CDG types is striking, and the field must continue to push for innovative therapies. Clinicians and researchers must work together to describe the natural course and, most importantly, collaborate to find new therapies.
自 1980 年发现首例蛋白糖基化缺陷以来，先天性糖基化障碍（CDG）的病例数量迅速增加，临床表现谱广泛。由于 CDG 种类的不断增加和复杂性的提高，甚至需要新的命名法。到 2011 年，CDG 组包括脂质糖基化紊乱和其他相关过程，几乎有 50 种不同的疾病。
目前的研究不仅扩展了 CDG 类型的范围，而且对以前描述的疾病也有了新的认识。保守的寡糖基高尔基体复合物中的遗传缺陷的发现，通过分泌途径影响蛋白糖基化和加工，提出了“继发性”糖基化紊乱的概念。以前被认为罕见的与 CDG 相关的脂质合成的脂质糖基化紊乱的数量也在迅速增加。在其他研究领域，随着 DPM-CDG 亚组中额外缺陷的发现，肌营养不良症和代谢紊乱之间的联系进一步得到加强，DPM-CDG 是一种以显著肌肉受累为特征的 CDG。
临床医生了解 CDG 领域的最新进展并将其纳入未知综合征表现的鉴别诊断非常重要。然而，仍有许多进展有待实现，包括 CDG 的自然病程信息。几乎所有 CDG 类型都缺乏治疗方法，这一点引人注目，该领域必须继续推动创新疗法。临床医生和研究人员必须共同努力描述自然病程，最重要的是，合作寻找新的治疗方法。
