杨仁池 血友病防治的进展课件

血友病防治的进展,中国医学科学院中国协和医科大学血液学研究所血液病医院 杨仁池,概况,血友病是一种遗传性出血性疾病，呈X连锁隐性遗传。本病是由于凝血因子VIII和IX基因突变使FVIII和FIX质或量的异常所致。 血友病甲在男性人群中的患病率约为1/5000，占血友病总数的80%以上；血友病乙在男性人群中的患病率约为1/30000，占血友病总数的10%20%。 目前，本病在发展中国家（如我国）的致残率和病死率远高于发达国家。替代治疗是唯一有效的治疗措施。因此，这类患者也是发生肝炎和爱滋病的高危人群。,血友病的严重程度与出血,血友病甲和乙的分型,重型 中间型 轻型 因子水平 5 % 特征是自发出血 轻微损伤出血 严重损伤、外科手术 和侵入性检查时出血 每周可出血 1- 2次 每月可出血 1次 可以从不出血 关节受累为特征 可有关节受累 关节受累罕见 (关节血肿),国内现状,无足够的凝血因子制剂 凝血因子制剂费用太高 大多数血友病病人无医疗保险 无全国性的血友病防治系统 病人组织未获官方认可 医护人员对本病认识不够 病人及其家庭成员对本病认识不够 多数医院不能对本病进行诊断（因为实验条件不具备）,WFH Global Survey 2001/2,Country Pop. Diagnosed No. HTC Percapita (106) (%) FVIII use Australia 19 95 15 3.0 USA 278 87 140 3.4 Germany 82 82 6 5.5 Iran 63 82 10 0.5 Russia 146 81 4 0.1 Egypt 63 75 7 0.1 South Africa 42 52 10 0.6 India 998 12 56 0.01 China 1227 5,WFH Global Survey 2004,Australia: Hemophilia 1070, vWD 804 USA: Hemophilia 14886, vWD 9801 UK: Hemophilia 6109, vWD 5582 Germany: Hemophilia 4800, vWD 3100 Italy: Hemophilia 5319, vWD 2275 Russia: Hemophilia 7875, vWD 3380 Thailand: Hemophilia 1325, vWD 69 Turkey: Hemophilia 1929, vWD 100 South Africa: Hemophilia 1579, vWD 463 China: Hemophilia 4131, vWD 227,1.宝石的概念：凡是经琢磨、雕刻可以成为首饰和工艺品的材料。 2.宝石的分类: 包括天然宝石和人工宝石两大类。 (1)天然宝石 指由自然界产出，具有美观、耐久、稀少性和工艺价值的，可加工成装饰品的物质。 (2)人工宝石 完全或部分由人工生产或制造用作首饰及工艺品的材料。它包括合成宝石、人造宝石。,宝石：都是天然生成的矿物单个晶体或晶体的一部分。如祖母绿、钻石、红蓝宝石、水晶等。 对宝石的要求：颜色鲜艳，透明度好，硬度不低于玻璃，即不低于摩氏硬度5.5-6。 玉石：由大量细小的同一种矿物晶体所组成的集合体。如翡翠、软玉等。 对玉石的要求：颜色美观，光泽喜人，硬度不低于摩氏硬度4，质地细腻。 彩石： 它是由一种或多种矿物的细小晶体组成的集合体，即地质学上所谓的岩石。 对彩石的要求：颜色鲜艳，光泽美，或者有奇特的花纹结构。,WFH Global Survey 2004,调查的国家：96个 覆盖的世界人口：85% 血友病：120812例；vWD：43334例 国家数据库：40个,Current Data,Tianjin Hemophilia Center:1627 Anhui Hemophilia Center: 717 Shandong Hemophilia Center: 669 Jiangsu Hematology Institute: 389 Ruijin Hospital: 341 First affiliated hospital of Sun Yet-san University: 250 Nanfang Hospital: 169 Guangdong peoples hospital: 165 Peking Union College Hospital: 79 The third peoples hospital of Wenzhou: 60 Beijing Peoples Hospital: 55 Beijing children hospital: 47 First affiliated hospital of Zhejiang University: 9 Total: 4577,Hemophilia and related disorders in Tianjin Hemophilia Center (1980-2002.6),Total:1312 Hemophilia A: 988 (75.3%) Hemophilia B: 186 (14.2%) vWD：85 (6.5%) FXI deficiency：23 (1.8%) Acquired FVIII deficiency：15 (1.1%) Others：15 (1.1%),Arthropathy in different ages,0-10: 48/386(12.4%) (15.2%) 10-20: 76/251(30 .3%)(35.0%) 20-30: 73/141(51 .8%)(55.7%) 30: 74/143(51 .7%)(72.3%),AIDS in recipient of coagulation factor concentrates (1978-85),60-70% patients became infected with HIV Thousands of them have died of AIDS HIV infection increases the risk of liver failure after infection with HCV 21-fold (Estimated risk of liver failure 20 years after infection with HCV is 10%),血友病的基因治疗,世界上首例血友病基因治疗临床试验由薛京伦教授及其研究组完成 FVIII或FIX基因缺陷小鼠的实验 FVIII或FIX基因缺陷犬的实验 现阶段的临床试验： 载体-AAV、腺病毒、逆转录病毒等 途径-肌肉注射、肝静脉等,血友病出血的治疗原则,早期治疗 - 2小时以内, 如有可能进行“家庭”治疗 “怀疑时治疗” 静脉穿刺时倍加小心 - 合适的针头 (21 - 25G) - 恰当的技术 - 穿刺后加压 10 - 15 分钟 避免导致血小板功能异常的药物 ( 阿斯匹林 / NSAID) 多学科方法 “综合护理”,血友病的出血部位,关节 肌肉 / 软组织 口腔 鼻衄 血尿 胃肠道 擦伤 / 撕裂伤 中枢神经系统出血 损伤相关 任何部位,替代治疗指南 出血类型 FVIII剂量（U/kg） FIX剂量（U/kg） 因子水平(%) 急性关节出血 10-20，q.12h 15, q.24 30-50 肌肉内 20-30, q12h 40-60, q.24h 40-50 CNS 50, q12h, 或连续输注 100，然后50, q24h 开始100，然后 50-100，10-14d 损伤或外科 50, q12h, 或连续输注 100, q24h 100, 然后50, 至伤口开始愈合， 然后30至痊愈 咽后壁 50, q12h, 4d 40, q24h, 4d 50-70 胃肠道 50, q12h, 3d, 40, q24h, 3d 50-100 或直至出血减轻 或直至出血减轻 血尿 40，3-5d 40, 3d 50 拔牙 20,一次，EACA 40,一次，EACA 50 100mg/kg, 7-10d 100mg/kg, 7-10d 腹膜后 50, q12h, 6d 100, q24h, 6d 开始100，然后 50，直至痊愈,China A Prioritized Project, WFH,1993 1997: Education and Training 1997 2001/02: Hemophilia Twinning Centres and Treatment Centre Development 2002 2004: A Country Program with a Hemophilia Treatment Centre Network, China,China A Prioritized Project, WFH,In 1993, WFH launched a priority project to promote and improve Hemophilia Care in China. Objectives: Education Training Awareness Care improvements,Over the past 10 years significant progress has been Achieved through three phases of planning.,1993 1997: Education and Training,Major activities focused on Hemophilia conferences for educating professionals, patients, families and hospital staff. Training, education, awareness and participation by patient groups increased. WFH fellowships were awarded to physicians, nurses, technologists and surgeons. This resulted in increased professionals with expertise in the clinics.,1997 2001/02: Hemophilia Twinning Centres and Treatment Centre Development,Under the WFH Hemophilia Twinning Centre program, 4 centres were established in China. 1997 Hematology Institute, Tianjin / Calgary, Canada 2000 Nanfang Hospital, Guangzhou / Ottawa, Canada 2000 Hong Kong/ London, UK 2001 Ruijin Hospital, Shanghai / Calgary and Ottawa Hemophilia Treatment Centres were developed in Jinan and Hefei.,Patient Group Activities / Leadership,Five patient leaders from four cities were identified and received leadership training in Montreal (2000) , Seville (2002) and Bangkok (2004). This group established the Hemophilia Home of China developing a website. They have been very active in their communities promoting patient care and participation. Many patient education materials have been translated into Chinese by this group.,Vision for a National Strategy,2001 - 2004 As these centres matured, sharing of expertise and resources strengthened. Through this collaboration, the value of a National Body to coordinate development of Hemophilia Care in the country was realized.,At the Regional Hemophilia Care Conference, Guangzhou, Nov 2001, the professional groups agreed on: (1) Three priority projects for urgent development: (i) A National Registry (ii) Hemophilia Nursing (iii) Coagulation testing workshops. (2) A strategy to formulate a National Body, later formalized as the “Hemophilia Treatment Centre Collaborative Network, China”.,Project Progress,National Registry Project chair: Dr. Renchi Yang, Tianjin. Established 2002. Current registrants = 4132 patients (approx. %5 of estimated PWH in China). Poster presentation in Bangkok. Hemophilia Nursing Project Chair: Dr. Jing Sun, Nanfang. Two Hemophilia Nursing conferences November 2003, October 2004. Poster presentation in Bangkok. Coagulation Testing Workshop Project Chair: Dr. Xuefeng Wang, Shanghai, April 2005,2002 2004: A Country Program with a Hemophilia Treatment Centre Network, China,Between 2002 2003 Dr. MC Poon and Dr. KH Luke visited centres in Beijing, Tianjin, Jinan, Shanghai, Hefei and Guangzhou and received unanimous support for a National Network. A proposal for a Country Program for China was supported by WFH. A WFH Hemophilia Conference was held to establish the network in 2004 in Shangdong Blood Center, Jinan, Shangdong.,WFH Hemophilia Conference March 2004, Jinan, China,At this conference the Hemophilia Treatment Centre Collaborative Network China was formalized. The six founding members are: 1. Hemophilia Centre, Institution of Hematology, Tianjin 2. Hemophilia Centre, Nanfang Hospital, Guangzhou 3. Hemophilia Centre, Ruijin Hospital, Shanghai 4. Hemophilia Centre, Peking Union Medical College Hospital, Beijing 5. Hemophilia Centre, Anhui Provincial Hospital, Hefei 6. Hemophilia Clinic, Shandong Blood Centre, Jinan A great achievement was the vast representation of 150 professionals from 25 cities / provinces.,A NETWORK OF HEMOPHILIA TREATMENT CENTRES HAS BEEN ESTABLISHED AS A SOLID FOUNDATION TO PROMOTE HEMOPHILIA CARE IN CHINA FOR THE FUTURE.,Challenges Ahead,MAJOR TARGETS 1. Provide accessible care to more patients with Hemophilia Outreach programs Education Workshops Hemophilia Nursing Patient group leaders / activities 2. Provide affordable care to more patient with Hemophilia A long-term goal to lobby MOH to support affordable treatment products for patients Short-term goals providing treatment for patients with prioritized needs,现状,全国血友病协作组成立于1985年，2000年重组 中国于1