10例重型β地中海贫血并发急性免疫性溶血的临床分析

目的 :探讨重型 β地中海贫血 (重型 β地贫 )并发急性免疫性溶血的临床特点、治疗和预后。 方法 :10例患儿是 1996年 1月～ 2 0 0 4年 3月本院住院患者 ,男 7例 ,女 3例 ,年龄 9个月～ 15岁 ,确诊重型 β地贫 1个月～ 11年 ,均依靠输血治疗 ,原Hb维持在 70～ 14 0g/L。入院时患儿表现为慢性溶血基础上于感染或输血后发生急性溶血 ,2周内Hb平均下降 4 5 g/L ,伴黄疸、血尿 ,间接胆红素、血游离Hb明显升高等血管内溶血表现。 10例直接Coomb试验阳性 ,其中 7例伴C3 抗体阳性 ;血清抗IgG均阴性 ;1例患者Rh血型为CCDee,输ABO同型血后发病 ,血清特异性抗cE抗体阳性 ;9例直接Coomb试验阳性病例血清无血型免疫性不规则抗体 ;1例在配血时发现自身血液有凝集现象 ,检查Coomb试验阳性。确诊后均予激素治疗 ,7例予甲泼尼龙 2 0～ 30mg/kg·d -1× (3～ 4 )d ;1例予地塞米松 0 .5mg/kg·d-1× 3d ;2例治疗之初即予泼尼松口服 2mg/kg·d-1;急性溶血控制后均予口服泼尼松维持治疗 4周以上 ;3例需加用CsA ,1例加用骁悉 ,3例同时使用丙种球蛋白 (IVIG) 2g/kg。输注经严格交叉配血 (患儿血与献血者血在生理盐水、酶、抗人球蛋白介质中交叉配血无凝血、无溶血现象 )的洗涤浓缩红细胞 35ml/kg ,1例Rh血型为CCDee患儿予输注R     

以溶血性贫血为首发表现慢性淋巴细胞白血病的诊断及治疗(附1例报告)

目的 总结以溶血性贫血为首发表现的慢性淋巴细胞白血病(CLL)的诊治经验.方法 回顾性分析1例少见的以AIHA为首发表现而无淋巴细胞增多和淋巴结肿大等临床表现的CLL患者的临床资料.结果 患者因皮肤黄染1月余,加重20天入院,查体贫血表现,实验室检查胆红素升高并以间接胆红素升高为主、网织红细胞升高、抗人球蛋白试验阳...     

11例IgG型免疫溶血性贫血的IgG亚型分布及临床分析

目的:研究11例IgG型免疫溶血性贫血患者IgG亚型的分类及其效价,评价IgG各亚型的疾病类型、贫血程度及疗效等情况.方法:用抗人球蛋白试验确定11例IgG型免疫溶血性贫血患者,进一步用免疫沉淀法鉴定其IgG亚型及效价,分析IgG亚型的类型及效价与其临床疾病、贫血程度及疗效相关性.结果:11例IgG型AIHA患者中,以IgG1型最为常见,效价多＞2430.其中1例为药物诱发所致,2例特发性温抗体自身免疫溶血性贫血(WAIHA)为IgG1型,引起的贫血程度为中等,对激素疗效佳;8例继发性WAIHA患者中,也以IgG1型最为多见,效价多＞2430;3例并发含有IgG3亚型患者的贫血较为严重,治疗效果不理想;而IgG4和IgG2亚型者较为少见.结论:分析IgG型免疫溶血性贫血患者的IgG亚型及效价,可作为Coombs'试验的辅助实验,它有助于探讨疾病的发生发展,并有助于分析贫血的严重程度、疗效及预后.     

自身免疫性溶血性贫血患者类抗-D抗体的鉴定及输血治疗（附1例报告）

目的 通过血清学和基因分型对1例自身免疫性溶血性贫血（AIHA）患者类抗-D抗体进行特异性鉴定,指导临床安全用血。方法 选择同济大学附属同济医院收治的1例女性AIHA患者为研究对象。采用PCR-SSP法检测鉴定患者ABO、Rh血型,患者血清标本进行吸收放散试验,利用谱细胞对患者血清及放散液中的不规则抗体进行特异性鉴定。回顾性分析患者的病例资料,总结其抗体处理结果和临床诊治经过。结果 患者血型为B型DCCee,不规则抗体筛查、直接抗人球蛋白试验结果均阳性,血清及放散液中均检出特异性类抗-D抗体,给予患者相容性去白细胞悬浮红细胞4 U输血后,血红蛋白（Hb）升高至56 g/L,未出现输血反应。采用糖皮质激素治疗后,患者Hb上升至62 g/L,贫血症状缓解。结论 血清学检测联合基因分型可鉴定具有同种抗体特异性的自身抗体,类抗-D抗体AIHA患者治疗首选糖皮质激素,危急情况下需要输血治疗时,应选择类抗体相应抗原阴性的红细胞,输血效果较好。     

重度自身免疫性溶血性贫血患者临床特征及输注不同类型红细胞成分的疗效分析

目的 分析重度自身免疫性溶血性贫血(AIHA)患者的临床特征及输注不同类型红细胞成分的疗效。方法 选取接受输血治疗的83例重度AIHA患者,按患者输注红细胞成分的种类分为三组:A组(27例)输注ABO+Rh同型洗涤红细胞,B组(28例)输注ABO+Rh同型去白细胞红细胞,C组(28例)输注ABO+Rh同型悬浮红细胞。根据指标血红蛋白(Hb)、红细胞计数(RBC)、网织红细胞百分数(Ret%)、总胆红素(TBIL),在对比分析患者临床特征和血清学特征的基础上,分析对比各组输血治疗效果和输血不良反应。结果 三组患者中继发性AIHA病因主要为结缔组织病和血液系统疾病。在直接抗人球蛋白试验中,致敏在红细胞上的抗体主要为Ig G+C3d,其次为Ig G,三组试验结果比较差异无统计学意义(P> 0.05)。在抗体筛查和抗体鉴定试验中,不规则抗体主要为自身抗体+同种抗体,其次为有血型特异性的自身抗体,三组试验结果比较差异无统计学意义(P> 0.05)。输注红细胞前,各组Hb、RBC、Ret%和TBIL差异无统计学意义(P> 0.05)。输注红细胞后,各组Hb和RBC水平显著高于输血...     

1335例心房颤动住院患者病因(或相关因素)分析

目的探讨心房颤动(房颤)住院患者的病因(或相关因素)。方法对我院2000年1月~2005年12月出院时诊断为房颤的1335例患者的临床资料进行回顾性分析。结果(1)入选患者1335例,年龄为19~101(68.7±11.9)岁,男女比例为1.31∶1,阵发性、持续性、永久性房颤分别为54.7%、10.6%、34.7%。(2)房颤病因(或相关因素)统计:老年70%,高血压57.3%,冠心病26.3%,风湿性心脏病12.8%,糖尿病19.8%,贫血18.6%。54.1%合并有心房扩大,12.6%有左心室射血分数下降。<45岁年龄组的首位病因(或相关因素)为风心病,而≥45岁年龄组为高血压。(3)随着高血压病程延长,房颤发生增加,但左心房内径无进一步增加。(4)房颤患者左心房前后径为阵发性房颤<持续性房颤<永久性房颤[(38.81±7.69)mm<(43.55±8.05)mm<(48.05±10.33)mm,P<0.05]。(5)随着房颤病程的延长左心房前后径增加[<5年:(39.98±8.05)mm,5~10年:(44.18±10.84)mm,>10年:(46.17±10.63)mm,P<0.05]。结论老年和高血压是房颤最常见的病因(或相关因素),应积极控制高血压,减少或延缓房颤的发生、发展。     

梗阻性黄疸的病因和诊断(附327例临床分析)

我科收集1966～1982年4月入院治疗的327例梗阻性黄疸,就其病因和诊断总结如下: 临床资料一、病例选择:入院时血清胆红质>2mg/dl,经临床、化验及特殊检查确诊为梗阻性黄疸,大部分病例(72.4%)有手术、病理结果。     

阻塞性黄疸病因和诊断的探讨(附505例分析)

黄疸以肝胆系统疾病多见。一般经临床观察、实验室检查(少数需经特殊检查)后,基本都能明确诊断。但在阻塞性黄疸时,对其究为肝内或肝外阻塞,有时二者鉴别较为困难。现将我院自1958～1976年经手术或特殊检查(X线、肝穿刺、腹腔镜     

胃石的病因及诊治(附28例分析)

１９８４年至１９９６年我院经胃镜诊断胃石２８例，占同期胃镜检查人数的０．９８‰。结合１９７７年后文献报告的５４１例，对胃石的成因及诊治方法做一分析。一、一般资料本组男１６例，女１２例，年龄２５～８１岁，平均３６．３岁。病程２天～１５个月，平均３．３月...     

抗磷脂综合征合并自身免疫性溶血性贫血37例临床特征及危险因素分析

目的探讨抗磷脂综合征(APS)合并自身免疫性溶血性贫血(AIHA)的临床特点及危险因素。方法回顾性分析。选2017年5月至2021年5月北京协和医院风湿免疫科连续收治的315例APS患者, 分析其临床特征, 包括一般人口学资料、临床表型(起病首发症状, 起病至确诊APS的时间, 是否合并系统性红斑狼疮(SLE)、血栓事件、病理妊娠事件, 是否合并APS标准外表现)、实验室检查结果[血常规、抗磷脂抗体(aPLs)、血脂、同型半胱氨酸、抗核抗体谱、免疫球蛋白水平、补体水平]。对临床特征及危险因素进行单因素及多因素logistic回归分析。结果 315例APS患者中合并AIHA者37例(11.7%), 未合并AIHA者278例, 均以AIHA为首发表现或同时发病, 其发病至确诊APS的中位时间12个月;APS合并AIHA者比未合并AIHA者出现SLE的比例高[62.2%(23/37)比 19.4%(54/278), P<0.001];两者出现血栓及病理妊娠的比例差异无统计学意义(P>0.05)。合并AIHA者出现血小板减少的风险显著升高(OR=6.19, 95%CI 2.81～1...     

Reappraisal of the clinical and etiologic significance of immunoglobulin deviations in autoimmune hemolytic anemia (‘warm type’)

Summary 56 patients with autoimmune hemolytic anemia (warm type) (AIHA) were investigated for immunoglobulin deviations. Of these, 43 were repeatedly analyzed (mean 4 times). The mean observation time was 20 months. The immunoglobulin values were correlated with clinical (degree of hemolysis) and serological (immunoglobulin class of autoantibodies; strength of antiglobulin reaction) parameters and statistically evaluated by variance analysis. Although no significant deviations of immunoglobulins in AIHA were found as compared to a normal control group, the immuno-globulin disturbance most frequently seen was an elevation of IgM. This is inter-preted as a possible lack or functional impairment of immunoregulatory T cells in AIHA.Supported by the Deutsche Forschungsgemeinschaft (Mu 277/6).     

Usefulness of electron microscopy in the diagnosis of congenital dyserythropoietic anemia type I: report of a case.

This report describes a case of congenital dyserythropoietic anemia (CDA) type I diagnosed in a 22-year-old woman with a two year history of macrocytic anemia. Light microscopy study of bone marrow disclosed only minor and nonspecific findings, without erythroid hyperplasia. Electron microscopy of bone marrow erythroblasts surprisingly showed most of the classical features of CDA type I. Electron microscopy may be an important tool for the diagnosis of macrocytic anemia of obscure origin, especially in young patients.     

Autoimmune cytopenias in pernicious anemia: a report of four cases and review of the literature

Pernicious anemia appears to be autoimmune in origin and is associated with immune disorders of several organ systems. We report 4 patients with pernicious anemia and immune cytopenias, an association that may sometimes pose diagnostic problems unless specifically considered. Pernicious anemia coexisted with or was closely followed by idiopathic thrombocytopenic purpura in 3 patients and by autoimmune hemolytic anemia in a 4th patient. In addition to cobalamin therapy, all patients required corticosteroids (2 also received danazol), while 1 also required splenectomy. All 4 patients were women. The 3 patients with idiopathic thrombocytopenic purpura were also blood group O and were iron-deficient. Autoimmune cytopenias may occur in patients with treated or untreated pernicious anemia and require specific therapy.     

Report of a family segregating mutations in both the <Emphasis Type="Italic">APC</Emphasis> and <Emphasis Type="Italic">MSH2</Emphasis> genes: juvenile onset of colorectal cancer in a double heterozygote

Background and aims  Mutations in DNA mismatch repair genes are associated with high risk of digestive malignancies [hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome]; mutations of APC and MYH are associated with classic and attenuated familial adenomatous polyposis (FAP). Although the early onset of tumors in both syndromes is characteristic of their genetic origin, pediatric malignancies remain rare. Certain reports have found familial colorectal cancer (CRC) occurring in very young patients associated with mutations in more than one gene. Materials and method  A family corresponding to the Amsterdam criteria for HNPCC, including two cases of colorectal cancer before the age of 25 years, was analyzed for mutations in the MSH2 genes by sequencing. Because polyposis was observed in a patient who developed CRC at age 16, the APC gene was also sequenced. Results  A truncating mutation in the MSH2 gene, c.258_259delTG, was carried by patients developing cancer of the colon (two patients), uterus, kidney, bladder, and/or small intestine at ages 16, 24, 43, 44, 45, and 57, respectively. A patient with CRC at age 16 was found to carry the APC c.3183_3187del5 mutation as well as the MSH2 mutation, and it is inferred that her father, deceased of CRC at age 24, was also a double heterozygote. Interpretation  These results confirm that vigilance is required when interpreting molecular results for families with very young patients, as more than one gene may contribute to the genetic risk. Cancer screening measures must also be adapted to the earlier and more penetrant risk to double heterozygotes.     

坏死性肉芽肿性血管炎临床诊治新进展——附96例临床分析

目的 回顾性分析坏死性肉芽肿性血管炎(necrotizing granulomatous vasculitis,NGV)的临床资料,提高对本病的认识.方法 对我院收治的96例NGV患者的临床资料进行回顾性分析.结果 男45例,女51例,发病年龄4～71岁,平均年龄(39±15)岁.在病程中,出现鼻部症状58.3%,耳部症状47.9%,眼部症状45.8%,下呼吸道症状60.4%,血尿、蛋白尿57.3%,贫血43.9%,但与肾功能不全无明显相关性.静脉血栓栓塞症4.2%,抗中性粒细胞胞浆抗体阳性率91.3%,其中蛋白酶3特异性抗中性粒细胞胞浆抗体79.3%,髓过氧化物酶特异性抗中性粒细胞胞浆抗体12.0%.胸部CT异常率92.1%,表现为肺部结节或肿块影76.3%,斑片状阴影38.2%,空洞形成21.1%.最常见的病理表现包括坏死、肉芽肿和(或)血管炎,但三者同时存在率低,不同的活检部位阳性率差别大.经治疗后患者的部分或完全缓解率为88.5%.结论 NGV的临床表现复杂多样,有多系统或器官病变的症状,以上、下呼吸道及肾脏受累最多见,病理特点主要为坏死性肉芽肿及小血管炎.治疗后缓解率高,但容易复发.     

Gamma/delta T-cell hepatosplenic lymphoma: review of the literature, diagnosis by flow cytometry and concomitant autoimmune hemolytic anemia

 Hepatosplenic gamma/delta T-cell lymphoma is recognized as a subset of peripheral T-cell lymphoma in the REAL classification. Histologically these tumors are characterized by a mixture of small to medium-sized atypical lymphocytes. To date, approximately 15 cases of hepatosplenic γδ T-cell lymphoma have been reported. Affected individuals are usually young adults with a median age of 34 years. Patients commonly present with B symptoms and hepatosplenomegaly, but an absence of lymphadenopathy. The disease follows an aggressive course with median survival of 12–14 months and poor response to combination chemotherapy agents. Occasionally, the occurrence of frank blast transformation constitutes a terminal event for the patient. Although cytopenias are relatively common, nonimmune hemolytic anemia has been reported in one patient only. This is the first report of autoimmune hemolytic anemia associated with hepatosplenic γδ T-cell lymphoma. Received: 16 October 1996 / Accepted: 5 December 1996