The challenge of CDG diagnosis
The challenge of CDG diagnosis
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DOI：
10.1016/j.ymgme.2018.11.003
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发表时间：
2019-01-01
影响因子：
3.8
通讯作者：
Jaeken, J.
中科院分区：
文献类型：
--
作者：
Francisco, R.;Marques-da-Silva, D.;Jaeken, J.
先天性糖基化紊乱(CDG)是一种快速增长的遗传性疾病家族，目前包括约130种不同类型。CDG的诊断是一个挑战，不仅因为CDG的数量如此之多，而且因为即使在许多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中呈阴性，特别是在最常见的N-糖基化缺陷PMM2-CDG中。为了便于CDG的诊断，我们在此提供了一些实用的工具：(1)强烈提示一种独特的CDG的临床特征列表；(2)CDG中报告的临床、生化和实验室结果的表格，按器官/系统排列；(3)每个CDG中受影响的器官/系统的概述；以及(4)针对疑似CDG的患者的诊断决策树。最重要的是在任何原因不明的综合征中都要记住CDG，特别是当有神经受累的时候。这篇简短的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测试，并提供了已确定的CDG的最新列表和信息。其主要目的是作为医疗保健专业人员的CDG诊断简化指南，此外，还作为一种宣传和游说工具，帮助提高CDG诊断的有效性和及时性。
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.