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Early diagnosis of Gaucher disease in Korean patients with unexplained splenomegaly: a multicenter observational studyopen access

Authors
Young Rok DoYunsuk ChoiMi Hwa HeoJin Seok KimJae-ho YoonJe-Hwan LeeJoon Seong ParkSang Kyun SohnSung Hyun KimSungnam LimJoo Seop ChungDeog-Yeon JoHyeon Seok EomHawk KimSo Yeon JeonJong-Ho WonHee Jeong LeeJung Won ShinJun-Ho JangSung-Soo Yoon
Issue Date
Sep-2022
Publisher
대한혈액학회
Keywords
Acid β-glucosidase; Dried blood spot; Gaucher disease; Lysosomal storage disorder; Splenomegaly; Thrombocytopenia
Citation
Blood Research, v.57, no.3, pp.207 - 215
Journal Title
Blood Research
Volume
57
Number
3
Start Page
207
End Page
215
URI
https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/85945
DOI
10.5045/br.2022.2022089
ISSN
2287-979X
Abstract
Background Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. Methods This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly. Results A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (exact 95% CI, 0.0072‒1.5726). Conclusion The detection rate of GD in probable high-risk patients in Korea was lower than expected. However, the role of hemato-oncologists is still important in the diagnosis of GD.
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