胶原结合分析试验在血管性血友病检测中的应用

目的探讨胶原结合分析试验在血管性血友病(vWD)检测中的应用前景.方法应用ELISA 法作vWF胶原结合分析(vWFCBA),对该方法的敏感性、重复性作检测,并同时使用四种检测vWD的方法检测正常献血员、vWD患者、及其它出血性疾病患者的血浆vWF功能. 结果 vWD患者血浆vWFCBA水平明显低于正常人及其它出血性疾病患者(P<0.001);四种检测血管性血友病的试验其结果在vWD患者组与正常献血员组和其它出血性疾病组比较均有显著差异(P<0.01);正常献血员组与其它出血性疾病组比较无统计学差异(P>0.05).四种检测方法与各型vWD患者诊断总的符合率分别为vWFAg 85.7%,vWFRcof 76.2%,RIPA 80.9%,vWFCBA 95.2%. 结论 ELISA法检测vWFCBA操作简便,方法特异性、敏感性和重复性均较好,应用该方法可为vWD的诊断和分型能提供依据,在常规vWD的诊断分型中可替代vWFRcof和RIPA,值得临床推广应用.     

血管性血友病和血管性血友病因子的研究及临床诊治的进展

血管性血友病(vWD)是最常见的遗传性出血性疾病,其发病机制是由于血浆中血管性血友病因子(vWF)的缺乏或结构与功能的异常所致.随着对vWF结构与功能的了解及基因的定位,克隆,基因缺陷的检出,人们已对该病的发生、诊断、治疗都有了更为全面的认识[1].本文就vWD和vWF的研究及临床诊治的进展做一综述.     

血管性血友病和血管性血友病因子的研究及临床诊治的进展

血管性血友病(vWD)是最常见的遗传性出血性疾病,其发病机制是由于血浆中血管性血友病因子(vWF)的缺乏或结构与功能的异常所致.随着对vWF结构与功能的了解及基因的定位,克隆,基因缺陷的检出,人们已对该病的发生,诊断,治疗都有了更为全面的认识[1].本文就vWD和vWF的研究及临床诊治的进展做一综述.     

血管性血友病和血管性血友病因子的研究及临床诊治的进展

血管性血友病(vWD)是最常见的遗传性出血性疾病,其发病机制是由于血浆中血管性血友病因子(vWF)的缺乏或结构与功能的异常所致.随着对vWF结构与功能的了解及基因的定位,克隆,基因缺陷的检出,人们已对该病的发生,诊断,治疗都有了更为全面的认识[1].本文就vWD和vWF的研究及临床诊治的进展做一综述.     

高血压病患者血浆血管性血友病因子及其裂解酶的变化

目的：探讨高血压病患者血浆血管性血友病因子（von Willebrand factor,vWF）水平及血管性血友病因子裂解酶（von Willebrand factor—cleaving protease,vwF—cp）活性变化和临床意义。方法：高血压病患者分为合并高脂血症组32例和单纯高血压病组48例,健康成人组60例。应用免疫比浊法和免疫印迹发光绘图法分别检测血浆vWF水平和vWF-cp活性。结果：高血压病患者血浆vWF水平显著高于健康成人（P〈0．01）,而vWF-cp活性显著低于健康成人（P〈0．01）;高血压病合并高脂血症组血浆vWF水平高于单纯高血压病组（P〈0．05）,而vWF-cp活性差异无统计学意义（P〉0．05）。结论：血浆vWF水平升高,vWF—cp活性降低可能与高血压病发生、发展、内皮损伤有关,而且高血压病合并高脂血症其内皮损伤程度更重。     

1例血管性假性血友病患者卵巢黄体破裂的护理

血管性假性血友病是一种因止血功能缺陷的遗传性出血性疾病 ,表现为血浆中血管性假血友病因子量及质异常 ,凝血因子Ⅷ活性降低。我科曾收治 1例因左卵巢黄体破裂 ,诊断为血管性假性血友病的患者 ,现将护理体会介绍如下。病例介绍　患者 2 3岁。因下腹痛 2ｄ ,进行性加重5ｈ ,于     

宫内早孕合并血管性血友病行钳刮术1例报告

血管性血友病(von willebrand disease，vWD)是由于血管性血友病因子(vWF)缺乏或异常所引起的一类遗传性出血性疾病。多数患者为常染色体显性遗传，少数为常染色体隐性遗传，临床表现为出血倾向、出血时间延长。vWD是最常见的遗传性出血性疾病，月经过多妇女中可能有20％伴有此病。当vWD患者发生妊娠并要求行人工流产术时，必然增加临床处理的复杂性。现将我院收治的1例宫内早孕合并vWD行钳刮术的病例报告如下。     

2A型血管性血友病的临床诊断

目的　探讨 2A型血管性血友病的临床特征和诊断方法。方法　用出血时间 (BT)、血浆凝血酶原时间(PT)、全血凝固时间 (CT)、活化的部分凝血活酶时间 (APTT)、vWF :Ag、FⅧ :C、FⅧC :Ag、瑞斯脱霉素诱导的血小板凝集试验和血浆多聚物分析 ,对 12 6例有先天性出血倾向的患者进行了研究。结果　确诊为 2A型血管性血友病 14例。皆有初期止血障碍的出血特点 ,表现为BT延长 ,PT、CT正常 ,APTT轻度延长 ,vWF :Ag下降 ,FⅧ :C、FⅧC :Ag轻度下降 ,瑞斯脱霉素诱导的血小板聚集明显降低。血浆中缺乏大中分子量的多聚物。 结论　BT、CT、PT、APTT、vWF :Ag、FⅧ :C、瑞斯脱霉素诱导的血小板聚集试验可作为血管性血友病的初筛试验 ,血浆多聚物分析对确诊有较大的意义     

参加世界血友病联盟实验室室间质控评价总结

室间质控评价(EQA)是实验室质量保证的一个基本成分,并且为各实验室之间提供测定方法学和操作上的比较。在血液实验室,许多凝血试验是诊断和治疗血栓与出血性疾病的特异指标,如:凝血酶原时间测定(PT)、部分凝血活酶时间测定(PATT)、凝血因子Ⅷ活性测定(Ⅷ∶C)、凝血因子Ⅸ活性测定(Ⅸ∶C)、血管性血友病因子抗原(vWF∶Ag)测定等。我室自1994年参加了世界血友病联盟实验室室间质控评价,现将6年来的质控总结如下。     

血管性血友病因子与临床疾病的研究进展

血管性血友病因子在止血和血栓形成过程中起重要作用，vWF缺陷将导致血管性血友病，而在血栓性血小板减少性紫癜、冠心病、肿瘤的浸润与转移及糖尿病肾病等疾病，其活性水平可明显增高。现就血浆vWF活性水平与上述疾病关系的研究进展作一综述。     

von Willebrand Disease : A Clinico-haematological Spectrum

Background

Bleeding disorders are commonly seen in clinical practice. von Willebrand Disease (vWD), is the commonest and yet a profoundly under diagnosed cause, having a wide spectrum of clinical presentation. Of its three types, type 1 vWD (70% of the total vWD cases) has the mildest and a highly variable clinical and laboratory presentation.

Methods

A series of ten cases of vWD were comprehensively evaluated using recommended diagnostic parameters and therapeutic interventions.

Results

All major types of vWD were represented. A female preponderance, with primary presentation in the form of muco-cutaneous bleeds was observed. A positive history of consanguineous parental marriage and family history of bleeding disorder was elicited in two and three patients respectively. Nine patients were found to be anemic and thrombocytopenia was present in only one. Bleeding time by modified template (SIMPLATE) method, along with activated partial thromboplastin time (APTT) was increased in all ten cases and of these, nine had low factor VIII: C levels. Ristocetin induced platelet aggregation studies were abnormal in all the five cases it was performed. vWF:RCo activity determined in one individual was shown to be low. vWF:Ag assay was done in four cases revealing a near complete absence of von Willebrand factor antigen in one and mildly decreased levels in the other three. vWF multimer assay was advised in three cases. DDAVP, plasma derived vWF, blood products and local antifibrinolytics were used as primary modalities of treatment

Conclusion

Thus, strong clinical suspicion, thorough clinical evaluation and judicious use of investigations including repeated investigations at different times are needed for making a diagnosis of vWD.Key Words: Bleeding disorders, von Willebrand Disease     

Von Willebrand disease in China

Purpose To review the molecular pathogenesis in Chinese patients with von Willebrand disease (vWD) and polymorphisms of von Willebrand factor (vWF) in Chinese population. Data sources Both Chinese and English language literature search using MEDLINE (1985-1998), and original articles published in main Chinese and international journals.Study selection and data extraction After reviewing of the literature, 19 articles of them were selected that specifically addressed the stated purpose. Results The molecular pathogenesis of vWD was variant. Six cases of point mutation have been found in Chinese patients with vWD. The system of site-directed mutagenesis and expression of vWF gene was constructed. The polymorphisms of vWF gene are very different between Chinese and Gaucasians. Conclusion Combining to gene mutant in vWD patients, the use of site- directed mutagenesis and expression of vWF will help to understand the vWF function. The polymorphisms of vWF gene are useful marker in Chinese for carrier detection and prenatal diagnosis of vWD.     

von Willebrand disease in China

Ｐｕｒｐｏｓｅ　ＴｏｒｅｖｉｅｗｔｈｅｍｏｌｅｃｕｌａｒｐａｔｈｏｇｅｎｅｓｉｓｉｎＣｈｉｎｅｓｅｐａｔｉｅｎｔｓｗｉｔｈｖｏｎＷｉｌｌｅｂｒａｎｄｄｉｓｅａｓｅ (ｖＷＤ)ａｎｄｐｏｌｙｍｏｒｐｈｉｓｍｓｏｆｖｏｎＷｉｌｌｅｂｒａｎｄｆａｃｔｏｒ (ｖＷＦ)ｉｎＣｈｉｎｅｓｅｐｏｐｕｌａｔｉｏｎ Ｄａｔａｓｏｕｒｃｅｓ　ＢｏｔｈＣｈｉｎｅｓｅａｎｄＥｎｇｌｉｓｈｌａｎｇｕａｇｅｌｉｔｅｒａｔｕｒｅｓｅａｒｃｈｕｓｉｎｇＭＥＤＬＩＮＥ (1985- 1998) ,ａｎｄｏｒｉｇｉｎａｌａｒｔｉｃｌｅｓｐｕｂｌｉｓｈｅ…     

血浆ET-1、NO、vWF与糖尿病视网膜病变相关关系研究

目的 探讨反映血管内皮功能的标志物血浆ET-1、NO、vWF与糖尿病视网膜病变（DR）发展程度的关系.方法依据WHO标准选择2型糖尿病患者（DM）伴有或不伴有DR85人和健康对照组30人,采用酶联免疫吸附双抗体夹心法（ELISA）和硝酸还原法测定血浆ET-1、vWF和NO,离子交换层析分光光度法测定糖化血红蛋白（HbA1C）,记录相关生化和临床指标.结果伴有和不伴有DR的2型DM患者血浆ET-1、NO、vWF水平显著高于对照组（P＜0.01）;血浆ET-1水平与sBP、dBP和病程呈正相关,与空腹血糖、HbA1c、vWF水平呈显著正相关;血浆NO与病程、vWF呈负相关.血浆vWF与ET-1、病程、空腹血糖、HbA1C呈正相关,与NO水平呈负相关.结论DR的发生、发展与血管内皮功能异常程度有关.     

Acquired von Willebrand’s disease

von Willebrand’s disease (vWD) is the commonest inherited bleeding disorder in man with an estimated incidence of 1 per thousand of the population. Acquired von Willebrand’s disease (AvWD) is rare with less than 70 cases reported. AvWD is usually associated with autoimmune or clonal proliferation disorders and whilst the precise mechanism of acquired deficiency of von Willebrand factor (vWF) is poorly understood, the most likely candidate mechanism(s) are; antibodies inactivate or form a complex with immunologic or functional sites on vWF, or vWF multimers are selectively absorbed by malignant cells. Unlike hereditary vWD, the acquired form of the disease can be exceedingly difficult to manage. We report 4 cases of AvWD diagnosed at our centre over the past 3 yr. There was no evidence of a previous personal or family history of bleeding in any of the patients and AvWD was confirmed by laboratory testing. All 4 patients had a recognised primary medical condition known to be associated with AvWD (Waldenstrom’s Macroglobulinaemia in 2 patients, hypothyroidism in 1 patient and monoclonal gammopathy of unknown significance (MGUS) in 1 patient). The acquired haemostatic defect corrected following treatment of the primary condition in 3 patients with the other patient requiring on demand von Willebrand Factor replacement to control spontaneous and surgery induced bleeding.     

初诊急性白血病患者化疗前后血浆可溶性血管内皮细胞蛋白C受体、血管性血友病因子、P-选择素水平的变化

目的探讨初诊急性白血病(AL)患者化疗前后血浆可溶性血管内皮细胞蛋白C受体(s EPCR)、血管性血友病因子(v WF)、P-选择素(P-selectin)含量变化的临床价值。方法选取105例初诊AL患者以及120例健康体检者作为研究对象,再根据疾病类型将入组的初诊AL患者分为急性淋巴细胞白血病(ALL,35例)、急性早幼粒细胞白血病(APL,37例)、不包括APL的急性粒细胞白血病(non-APL AML,33例)。ALL组患者采用VDLP方案诱导化疗,APL组患者采用全反式维甲酸、三氧化二砷、柔红霉素方案诱导化疗,non-APL AML组患者采用DA方案或IA方案诱导化疗。采用酶联免疫吸附试验(ELISA)检测初诊AL患者化疗前后以及健康体检者的血浆s EPCR、v WF、P-selectin水平。结果 1初诊AL患者化疗前血浆s EPCR、v WF、P-selectin水平显著高于健康体检组(P0.05)。初诊AL患者化疗完全缓解后血浆s EPCR、v WF、P-selectin水平显著低于化疗前(P0.05),但是血浆s EPCR、v WF水平仍然显著高于健康体检组(P0.05),而血浆P-selectin水平与健康体检组相比差异无显著性(P0.05)。2不同类型初诊AL患者化疗前血浆s EPCR、v WF、P-selectin水平相比差异有显著性(P0.05),APL患者血浆s EPCR、v WF、P-selectin水平显著高于ALL患者、non-APL AML患者(P0.05),ALL患者与non-APL AML患者之间血浆s EPCR、v WF、P-selectin水平相比差异无显著性(P0.05)。结论初诊AL患者在治疗前往往伴随有血管内皮细胞损伤、血小板活化以及血液高凝状态,这种情况以APL表现更为显著。     

高压氧对冠状动脉支架术后患者von Willebrand因子和纤维结合蛋白的影响

目的了解高压氧治疗对冠状动脉(冠脉)支架术后患者von Willebrand因子(vWF)和纤维结合蛋白(Fn)的影响。方法对64例首次接受冠脉内支架治疗的冠心病患者随机分为高压氧治疗组和对照组,比较治疗前血清vWF和Fn的测定结果。结果高压氧组在治疗后vWF及Fn含量均显著低于治疗前(P<0.05),而对照组治疗前后vWF及Fn含量的差异均无显著性改变(P>0.05)。治疗前两组的vWF及Fn含量差异均无显著性(P>0.05),而治疗后两组vWF及Fn含量差异均有显著意义(P<0.05)。结论高压氧治疗可显著降低冠脉支架术后患者血清vWF及Fn的含量。     

肺癌和卵巢癌患者血栓相关标志物的实验研究

目的观察肺癌和卵巢癌患者的血浆FⅧ活性（FⅧ：C）、FIX活性（FⅨ：C）、vwF抗原含量（vWF：Ag）、TpP含量变化与肺癌分期分型及卵巢癌的相关性。方法用凝固法在Stago全自动凝血仪上测定38例肺癌、11例卵巢癌患者、20名正常人FⅧ活性、FⅨ活性,用ELISA方法测定血浆vWF抗原含量、rrpP含量。结果肺癌组和卯巢癌组血浆FⅧ：C,FⅨ：C,vwF：Ag、TpP含量均明显高于健康对照组,差异呈显著性（P〈0．05）。肺癌Ⅲ～Ⅳ期与Ⅰ～Ⅱ期患者比较,血浆FⅧ：C、vwF、TpP含量明显升高,差异呈显著性（P〈0．05）,血浆FⅨ：C差异无显著性。鳞癌、腺癌、小细胞癌三组间FⅨ：C、FⅨ：C、TpP含量差异无显著性。鳞癌组vWF：Ag最高,与腺癌组差异呈显著性（P〈0．05）。结论肺癌、卵巢癌患者处于血栓前状态,易发生血栓。FⅧ：C、vwF：Ag、TpP含量可作为对肺癌血栓前状态的诊断、判断预后及指导治疗的参考指标。     

妊娠高血压综合征患者血浆von Willebrand因子与一氧化氮水平的变化

目的 :探讨妊娠高血压综合征 (妊高征 )患者血浆vonWillebrand因子 (vWF)和一氧化氮 (NO)水平的变化。方法 :分别采用酶联免疫吸附试验 (ELISA法 )和Griess法测定 36例妊高征患者及 18例正常妊娠妇女血浆vWF和NO水平。结果 :中、重度妊高征患者血浆vWF高于正常妊娠妇女 ;妊高征患者血浆NO水平低于正常妊娠妇女 ;vWF水平越高或NO水平越低 ,妊高征病情越重。中、重度妊高征患者血浆vWF与NO呈明显负相关 (r =- 0 .5 48,P<0 .0 1)。结论 :vWF和NO可作为判断妊高征病情程度的指标 ;vWF和NO在中重度妊高征患者的发病中起相互拮抗作用