A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China

• Published in: Orphanet journal of rare diseases 2018-04, Vol.13 (1), p.48-48, Article 48
• Main Authors: Lei, Ke, Zhao, Yanxia, Sun, Lirong, Liang, Hui, Luo, Ronghua, Sun, Xiaojing, Tao, Yanling, Chen, Lijun, Zhang, Lingling, Li, Aimin, Li, Fu, Ding, Hongfang
• Format: Article
• Language: English
• Subjects: Analysis; Beta glucocerebrosidase; Blood; Care and treatment; Child; Child, Preschool; Children; China - epidemiology; Diagnosis; Dried blood spot; Dried Blood Spot Testing; Enzymes; Female; Gaucher Disease; Gaucher Disease - blood; Gaucher Disease - diagnosis; Gaucher Disease - epidemiology; Gaucher's disease; Health aspects; Humans; Hydrolases; Infant; Infant, Newborn; Male; Medical examination; Medical screening; Methods; Pediatrics; Pilot Projects; Risk factors
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-018-0782-x

The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) children in China, and to investigate the GD prevalence in this selected population. Children were recruited from 20 departments of pediatrics or children's hospitals in Shandong Province, China, due to splenomegaly and/or thrombocytopenia associated with one or more of the following creteria: anemia, history of bone pain, monoclonal gammopathy of unknown significance (MGUS), polyclonal gammopathy and splenectomy. GBA activity on DBS was tested, and patients with DBS GBA activity under 30 nmol/h.ml were recalled to assess enzyme assay with gold standard and molecular GBA gene analysis on leukocytes. A total of 73 children (47 boys and 26 girls) were enrolled in this study. GBA activity DBS