【作者】 许书倩；

【导师】 侯明；

【作者基本信息】 山东大学 ， 内科学， 2008， 硕士

【摘要】 [目的]:特发性血小板减少性紫癜(Idiopathic thrombocytopenic purpura,ITP),是以免疫介导的血小板破坏为特征的疾病,为临床异常出血最常见的病因;骨髓增生异常综合征(Myelodysplastic syndrome,MDS)是一组获得性造血干/祖细胞克隆性疾病,以无效造血、病态造血为特征;二者发病机制、病程及预后均有显著不同,然而发病初期都可表现为单纯的血小板减少,建立诊断均需用排除法,使鉴别十分困难。且近年来发现某些初诊为ITP的患者随着病情进展,检查后发现有遗传学上的异常,故有学者提出二者除临床表现相似外,可能有着共同的发病机制,本研究通过探讨老年ITP患者及MDS患者染色体核型异常以及异常位置,为理解ITP的发病机制并完善其与单纯血小板减少性MDS的鉴别诊断标准提供更进一步的信息,为难治性血小板减少(refractory thrombo cytopenia,RTC)的诊断提供一种新的思路。[材料和方法]:采取病例-对照研究,收集汉族人群中33例中老年ITP患者,9例MDS患者及10例正常对照者的骨髓,均抽取3～5ml受试者骨髓于肝素抗凝的无菌小瓶中,同时采用直接法和24h培养法,核型分析采用R显带技术,在山东大学齐鲁医院血液学研究室完成。异常核型按1995年《人类细胞遗传学国际命名体制ISCN》描述。[结果]:正常对照组均未发现染色体核型异常,33例ITP患者中有2例存在染色体核型异常,其中1例为(47,XY,+8),另1例为(46,XX,20q-);9例MDS患者共出现4例染色体核型异常,其中2例染色体核型异常分别为为(47,XX,+8),(47,XY,+8),另外1例染色体核型为(46,XX,20q-),1例为染色体核型为(46,XX,5q-)。[结论]:ITP与MDS可能在临床表现和发病机制上存在重叠,ITP患者中出现染色体异常者应从ITP中分出来归入骨髓增生异常综合征。更多还原

【Abstract】 Object Idiopathic thrombocytopenic purpura is an immune-mediated thrombocytopenic disease,which is the most common cause for abnormal bleeding. Myelodysplastic syndrome is an acquired clonal disease affecting both hemopoietic stem cell and progenitor cell,characterized by ineffective hematopoiesis and dyshaematopoiesis;They are distinctly different in pathogenesis,course of disease and prognosis.But both of them may first present as isolated thrombocytopenia, diagnosis established by exclusion,the overlapping clinical appearance make the differential diagnosis difficult.This research discuss the karyotypic abnormality in aged idiopathic thrombocytopenic purpura patients and myelodysplastic syndrome patients to augment the understanding of the pathogenesis of ITP and improve a new diagnostic method with refractory thrombocytopeniaMaterials and Methods The research is a case-control study.We collected the bone marrow of 33 ITP patients,9 MDS patients and 10 normal controls in Han nationality,and obtained their bone marrow and put them in the pyxis with heparin, and then adopted direct method and culture method synchronously.Finally we get the karyotype analysis by R-banding.These were done in the Hemotology Lab.of Qilu Hospital.Results No mutation was found in normal controls.In thirty-three ITP patients, One abnormity of chromosome was detected(47,XY,+8),One abnormity of chromosome was found in another patient(46,XX,20q-).Four abnormities were positive in MDS patients.Among them two had the abnormity of +8,one had 20q-, another had 5q-.Conclusions ITP and MDS may be overlapping in clinical manifestations and pathogenesis,and the patients with karyotypic abnormality should be ruled out from ITP and classified into MDS again.更多还原