CAJ | 학술논문

目的总结以溶血为首发症状的真性红细胞增多症1例临床资料及实验室检查特点.方法结合文献探讨该病的常规细胞遗传学分析、JAK2V617F点突变检测、BCR/ABL融合基因检测等实验室检查的诊断方法与治疗.结果检测显示JAK2V617F点突变阳性,BCR-ABL融合基因阴性,染色体为8号三体.先后予以地塞米松、抗感染、保肝等常规治疗和放血、羟基脲、干扰素等后续治疗后好转出院,出院维持治疗至今,生存良好.结论本病起病隐袭,早期不易发现,JAK2V617F点突变的等位基因特异性聚合酶链反应(AS-PCR)检测有助于诊断.
목적 총결이용혈위수발증상적진성홍세포증다증1례림상자료급실험실검사특점.방법 결합문헌탐토해병적상규세포유전학분석、JAK2V617F점돌변검측、BCR/ABL융합기인검측등실험실검사적진단방법여치료.결과 검측현시JAK2V617F점돌변양성,BCR-ABL융합기인음성,염색체위8호삼체.선후여이지새미송、항감염、보간등상규치료화방혈、간기뇨、간우소등후속치료후호전출원,출원유지치료지금,생존량호.결론 본병기병은습,조기불역발현,JAK2V617F점돌변적등위기인특이성취합매련반응(AS-PCR)검측유조우진단.
Objective To summarize the clinical data and laboratory features of vera polycythemia incorporated with hemolysis in one case. Methods The treatment and diagnosis of series of laboratory detection with conventional cytogenetics,mutation detection in JAK2V617F,BCR/ABL fusion gene were investigated with literature. Results JAK2V617F point mutation was detected positively,BCR/ABL fusion gene was negative and trisomic chromosome 8. The case was mend and discharged after successively treated with conventional treatment of dexamethasone,antiinfective,hepatoprotective and follow-up treatment of bloodletting,hydroxyurea and interferon.Conclusions The onset of vera polycythemia is latent which is difficult to find in the early phase.Allele-specific PCR (AS-PCR) of JAK2V617F mutation will be helpful to the diagnosis.