Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature

Orphanet Journal of Rare Diseases

Sara Karimzadeh¹  Zahra Beyzaei²  Bita Geramizadeh³ 

[1]Shiraz Medical School Library, Shiraz University of Medical Sciences, Shiraz, Iran

[2]Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

[3]Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran

[4]Department of Pathology, Shiraz University of Medical Sciences, Zand St., Shiraz, Iran

关键词: Glycogen storage disease (GSD);    Massively parallel sequencing;    Exome sequencing;    Targeted gene sequencing;    Rare disease diagnosis;    Genetic diagnosis;   

DOI  :  10.1186/s13023-020-01573-8

来源: Springer

【 摘 要 】

BackgroundGlycogen 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.MethodsRelevant 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).ResultsEleven 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%.ConclusionsAccording 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.PROSPERO registrationCRD42020139931. Registered 8 January 2020.

【 授权许可】

CC BY