肝脏受累的糖原贮积病(GSD)是具有相似表现的复杂疾病。目前,主要的诊断方法,如组织诊断,组织病理学或酶检测,是侵入性的。同时,GSD是具有显著遗传异质性的疾病,基因测序方法可能更有用。本系统综述旨在回顾文献,以评估大规模平行测序在先前未诊断的肝脏受累患者的GSD诊断中的价值。
MEDLINE/PubMed中确定的相关研究,EMBASE,科克伦图书馆,Scopus,和WebofScience核心收藏数据库,截至2019年7月,没有时间和语言限制。如果出版物分析了肝脏受累的GSD,则将其纳入审查中(GSDI,GSDIII,GSDIV,GSDVI,GSDIX),使用靶向基因测序(TGS)或外显子组测序(ES)。
本系统综述包括11项研究。ES显示出93%的诊断产率。这些方法正确区分所有类型的致病变体。TGS方法的诊断产率约为79.7%。
根据我们的结果,TGS分析可被认为是有价值的结果的一线诊断方法,ES可用于诊断肝脏受累的GSD复杂病例。总的来说,这些分子方法被认为是准确的诊断工具,通过减少不必要和不准确的测试,加快正确的诊断和治疗,具有显著的成本效益。
CRD42020139931。2020年1月8日注册。
Glycogen storage diseases (GSDs) with liver involvement are complex disorders with similar manifestations. Currently, the main diagnostic methods such as tissue diagnosis, either histopathology or enzyme assay, are invasive. Meanwhile, GSDs are diseases with significant genetic heterogeneity, and gene-sequencing methods can be more useful. This systematic
review aims to
review the literature to assess the value of massively parallel sequencing in the diagnosis of GSDs on patients with previously undiagnosed hepatic involvement.
Relevant studies identified in the MEDLINE/PubMed, EMBASE, Cochrane Library, Scopus, and Web of Science Core Collection databases up to July 2019 with no time and language restrictions. Publications were included in the
review if they analyzed GSDs with hepatic involvement (GSD I, GSD III, GSD IV, GSD VI, GSD IX), using targeted gene sequencing (TGS) or exome sequencing (ES).
Eleven studies were included in this systematic
review. ES demonstrated a 93% diagnostic yield. These methods correctly distinguished all types of pathogenic variants. The diagnostic yield of the TGS method was around 79.7%.
According to our results, TGS analysis can be considered as the first-line diagnostic method with valuable results and ES can be used to diagnose complex cases of GSD with liver involvement. Overall, these molecular methods are considered as accurate diagnostic tools, which expedite correct diagnosis and treatment with significant cost-effectiveness by reducing unnecessary and inaccurate tests.
CRD42020139931. Registered 8 January 2020.