CAJ | 학술논문

目的探讨血友病A伴抑制物的免疫耐受诱导(immune tolerance induction,ITI)治疗,提高血友病A伴抑制物患者的诊疗水平.方法对重型血友病A患者用APTT标准曲线一期法测定凝血因子Ⅷ(FⅧ)活性(FⅧ∶C);用Bethesda法定量测定FⅧ抗体;用长距离PCR方法检测内含子22倒位.结果经检测发现患者为FⅧ基因22内含子倒位;ITI治疗3个月后,患者FⅧ抑制物滴度下降为0,输注FⅧ后回收率＞66%,治疗6个月后达到抑制物清除标准,停止治疗.结论该患者是国内首例采用ITI成功治疗血友病A伴抑制物的病例,ITI是目前最有希望根除血友病抑制物的方法.
목적 탐토혈우병A반억제물적면역내수유도(immune tolerance induction,ITI)치료,제고혈우병A반억제물환자적진료수평.방법 대중형혈우병A환자용APTT표준곡선일기법측정응혈인자Ⅷ(FⅧ)활성(FⅧ∶C);용Bethesda법정량측정FⅧ항체;용장거리PCR방법검측내함자22도위.결과 경검측발현환자위FⅧ기인22내함자도위;ITI치료3개월후,환자FⅧ억제물적도하강위0,수주FⅧ후회수솔＞66%,치료6개월후체도억제물청제표준,정지치료.결론 해환자시국내수례채용ITI성공치료혈우병A반억제물적병례,ITI시목전최유희망근제혈우병억제물적방법.
Objective To explore the immune tolerance induction (ITI) in a severe hemophilia A sayed by one-stage method and FⅧ antibody by Bethesda method. Mutation screening of FⅧ gene intron 22 inversion was performed using LD-PCR. Results FⅧ gene intron 22 inversion was detected in this patient.Clinical tolerance to FⅧ was successfully induced after administration of the ITI regimen combined with immunosuppression. A fall of inhibitor titer from 8 BU to 0 BU after treatment for 3 months, and in vivo FⅧ recovery ( ＞ 66% ) was normalized. The patient had no bleeding episode in the following 6 months. Conclusion This is the first case report on successful immune tolerance induction therapy in Chinese hemophilia A patient. ITI is the most effective therapy for hemophilia A with inhibitor.