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논문 기본 정보

자료유형
학술저널
저자정보
Young Rok Do (Department of Internal Medicine Keimyung University Dongsan Hospital Keimyung University School of) Yunsuk Choi (Department of Hematology and Oncology Ulsan University Hospital University of Ulsan College of Medi) Mi Hwa Heo (Department of Hematology and Oncology Ulsan University Hospital University of Ulsan College of Medi) Jin Seok Kim (Division of Hematology Department of Internal Medicine Severance Hospital Yonsei University College) Jae-ho Yoon (Division of Hematology Department of Internal Medicine Catholic Hematology Hospital and Leukemia Re) Je-Hwan Lee (Department of Hematology Asan Medical Center University of Ulsan College of Medicine Seoul Korea) Joon Seong Park (Department of Hematology-Oncology Ajou University School of Medicine Suwon Korea) Sang Kyun Sohn (Department of Oncology/Hematology Kyungpook National University Hospital Kyungpook National Univers) Sung Hyun Kim (Division of Hematology and Oncology Department of Internal Medicine Dong-A University College of Me) Sungnam Lim (Department of Internal Medicine Inje University College of Medicine Haeundae Paik Hospital Busan Ko) Joo Seop Chung (Division of Hematology-Oncology Department of Internal Medicine Pusan National University School of) Deog-Yeon Jo (Division of Hematology/Oncology Department of Internal Medicine Chungnam National University Hospit) Hyeon Seok Eom (Department of Hematology-Oncology Center for Hematologic Malignancy National Cancer Center Goyang K) Hawk Kim (Division of Hematology Gachon University Gil Medical Center Gachon University College of Medicine I) So Yeon Jeon (Division of Hematology/Oncology Department of Internal Medicine Jeonbuk National University Hospita) Jong-Ho Won (Division of Hematology and Oncology Department of Internal Medicine Soonchunhyang University Hospit) Hee Jeong Lee (Department of Internal Medicine Hemato-Oncology Chosun University Hospital Gwangju Korea) Jung Won Shin (Division of Hematology/Oncology Department of Medicine Seoul National University College of Medicin) Jun-Ho Jang (Samsung Medical Center Seoul National University College of Medicine Seoul Korea) Sung-Soo Yoon (Seoul National University Hospital Seoul National University College of Medicine Seoul Korea)
저널정보
대한혈액학회 Blood Research Blood Research Vol.57 No.3
발행연도
2022.9
수록면
207 - 215 (9page)
DOI
10.5045/br.2022.2022089

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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.
#Acid β-glucosidase #Dried blood spot #Gaucher disease #Lysosomal storage disorder #Splenomegaly #Thrombocytopenia

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