中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2009年
3期
183-188
,共6页
于洁%管贤敏%戴碧涛%蒋莉萍%苏庸春%肖剑文%刘筱梅%宪莹%徐酉华%杨锡强%赵晓东
于潔%管賢敏%戴碧濤%蔣莉萍%囌庸春%肖劍文%劉篠梅%憲瑩%徐酉華%楊錫彊%趙曉東
우길%관현민%대벽도%장리평%소용춘%초검문%류소매%헌형%서유화%양석강%조효동
Wiskott-Aldrich综合征%造血干细胞移植%基因
Wiskott-Aldrich綜閤徵%造血榦細胞移植%基因
Wiskott-Aldrich종합정%조혈간세포이식%기인
Wiskott-Aldrich syndrome%Hematopoietic stem cell transplantation%Genes
目的 Wiskott-Aldrich综合征(WAS)是一种原发性免疫缺陷性疾病,严重病例预后不良.采用人类白细胞抗原(HLA)全相合的同胞骨髓移植成功治疗1例,特此总结并进行文献复习.方法 采用流式细胞仪检测WAS蛋白(WASP)表达和基因分析确诊WAS.患儿姐姐为人类白细胞抗原全相合骨髓供者,所采集骨髓单个核细胞数为4.38×108/kg,CD34+细胞3.78×106/kg患儿体重.采用白消安/环磷酰胺全清髓的预处理方案,环孢菌素单用预防移植物抗宿主病.移植后检测WASP表达和短串联重复序列(STR)作为植入证据.结果 患儿诊断:WAS,WASP(-IVS9+2T>C,WASP阴性).白消安/环磷酰胺预处理后骨髓回输;移植13 d中性粒细胞(ANC)绝对值0.8×109/L,移植15 d起血小板>50×109/L,1个月后正常.移植50 d起患儿WASP表达阳性,STR显示为供者DNA完全嵌合;随访至移植后510 d,患儿健康,WASP稳定表达.结论 结合病例和文献复习,人类白细胞抗原相合同胞骨髓移植治疗典型WAS近期预后较好.
目的 Wiskott-Aldrich綜閤徵(WAS)是一種原髮性免疫缺陷性疾病,嚴重病例預後不良.採用人類白細胞抗原(HLA)全相閤的同胞骨髓移植成功治療1例,特此總結併進行文獻複習.方法 採用流式細胞儀檢測WAS蛋白(WASP)錶達和基因分析確診WAS.患兒姐姐為人類白細胞抗原全相閤骨髓供者,所採集骨髓單箇覈細胞數為4.38×108/kg,CD34+細胞3.78×106/kg患兒體重.採用白消安/環燐酰胺全清髓的預處理方案,環孢菌素單用預防移植物抗宿主病.移植後檢測WASP錶達和短串聯重複序列(STR)作為植入證據.結果 患兒診斷:WAS,WASP(-IVS9+2T>C,WASP陰性).白消安/環燐酰胺預處理後骨髓迴輸;移植13 d中性粒細胞(ANC)絕對值0.8×109/L,移植15 d起血小闆>50×109/L,1箇月後正常.移植50 d起患兒WASP錶達暘性,STR顯示為供者DNA完全嵌閤;隨訪至移植後510 d,患兒健康,WASP穩定錶達.結論 結閤病例和文獻複習,人類白細胞抗原相閤同胞骨髓移植治療典型WAS近期預後較好.
목적 Wiskott-Aldrich종합정(WAS)시일충원발성면역결함성질병,엄중병례예후불량.채용인류백세포항원(HLA)전상합적동포골수이식성공치료1례,특차총결병진행문헌복습.방법 채용류식세포의검측WAS단백(WASP)표체화기인분석학진WAS.환인저저위인류백세포항원전상합골수공자,소채집골수단개핵세포수위4.38×108/kg,CD34+세포3.78×106/kg환인체중.채용백소안/배린선알전청수적예처리방안,배포균소단용예방이식물항숙주병.이식후검측WASP표체화단천련중복서렬(STR)작위식입증거.결과 환인진단:WAS,WASP(-IVS9+2T>C,WASP음성).백소안/배린선알예처리후골수회수;이식13 d중성립세포(ANC)절대치0.8×109/L,이식15 d기혈소판>50×109/L,1개월후정상.이식50 d기환인WASP표체양성,STR현시위공자DNA완전감합;수방지이식후510 d,환인건강,WASP은정표체.결론 결합병례화문헌복습,인류백세포항원상합동포골수이식치료전형WAS근기예후교호.
Objective Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency diseases. The patients with classical WAS have poor prognosis. The hematopoietic stem cell transplantation is the most effective method to cure WAS at present. In this report, a patient with WAS was cured with HLA identical sibling bone marrow transplantation (BMT). Methods Wiskott-Aldrich syndrome protein (WASP) was detected using flow cytometry and WASP were analsized for the diagnosis. The bone marrow was collected from the elder sister who was the HLA identical sibling donor. A total of 4.38 × 108/kg mononuclear cell (MNC)and 3.78 × 106/kg CD34+ cells were collected and tranfused into the patient after the conditioning regimen with busulfan/cyclophosphamide. Cyclosporine only was used for graft-versus-host disease prophylaxis. WASP and short tandem repeats (STR) were detected as the evidence of engraftment. Results The diagnosis was WAS: WASP (-IVS9 + 2T > C, WASP-negative). The patient received busulfan/cyclophosphamide 9 days before the transplantation. WBC decreased to 0.1 × 109/L in d +4; The absolute number of neutrophils (ANC) was 0.8 × 109/L in d+13, and exceeded 1.0 × 109/L later on. From d-9-d +14 the patient was dependant on platelet transfusion. From d+15 the patient's PLT > 50 × 109/L and returned to normal after d+30. In d+9-d10 mild GVHD (Ⅰ degree) occurred but subsided after the steroid treatment From d50, WASP was detected positive and STR showed full donor DNA chimera. Follow-up for 510 d post-transplant, the patient suffered only from mild cold twice, no eczema, no bleeding occurred. The PLT is normal and no chwnic GVHD occurred . The levels of IgG, IgM and IgA of the patient were approximatly normal. Conclusion The HLA-identical sibling's BMT seems to be the periorit treatment of choice for the WAS patient.
