儿童血栓性血小板减少性紫癜

血栓性血小板减少性紫癜（TTP）在儿童病例中甚为少见,但如未能及时诊断及施予治疗,其后果则极为严重。其最常见之5种病症为：血小板减少、微血管溶血性贫血、急性肾衰竭、发热及中枢神经系统症状。但临床病例中,并不一定会同时出现上述5种症状。故此医疗人员对此病必须有极高之警觉性。TTP之病理特征包括：外周血涂片可见裂体细胞,Coombs 试验阴性,血清乳酸脱氢酶增高及中度或重度血小板减少。TTP发病机理主因缺乏ADAMTS13,从而引发微血管溶血性贫血及血小板减少。TTP可概括分为家族性TTP（Upshaw Schulman 综合征）和继发性TTP。家族性TTP是由于先天性ADAMTS13缺乏所致,其急性治疗法为血浆置换,当病情稳定后,可输注新鲜冰冻血浆以防止病情复发。继发性TTP是指患者因体内产生抗体而导致ADAMTS13功能减退,主要治疗方法亦为血浆置换,最新之临床文献显示rituxiamb对此症亦颇有治疗价值。     

血栓性血小板减少性紫癜3例

血栓性血小板减少性紫癜(TTP)是小儿时期一种少见的微血管血栓性出血综合征.起病急骤,病情复杂,早期诊断困难,病程进展快,病死率高.本科共收治3例TTP.现报告如下.     

儿童获得性血栓性血小板减少性紫癜五例分析

目的:探讨儿童获得性血栓性血小板减少性紫癜(aTTP)的临床特点、治疗情况以及预后。方法:回顾性病例总结,以2016年1月至2019年7月于首都医科大学附属北京儿童医院住院治疗的5例aTTP患儿为研究对象,分析患儿临床表现、实验室检查、治疗及预后情况。结果:纳入5例aTTP患儿,占同期血栓性血小板减少性紫癜患儿的5/11,其中男2例、女3例,发病年龄8.9(0.8~14.5)岁。5例患儿均存在血小板减少和微血管病性溶血性贫血,仅1例存在经典五联征,3例患儿伴神经系统症状,3例有发热,而肾功能损伤相对少见(1例)。5例患儿均存在重度血小板减低[7(4~14)×10⁹/L]及血红蛋白下降[70(58~100)g/L];血生化检查示3例总胆红素水平升高,均以间接胆红素升高为主,5例乳酸脱氢酶水平均升高,1例尿素氮升高。骨髓穿刺提示巨核细胞数目不低。ADAMTS13活性检查均为0,4例ADAMTS13抑制物阳性,1例为阴性。5例患儿均接受糖皮质激素治疗,并且在疾病早期应用利妥昔单抗治疗,3例患儿接受血浆置换。5例患儿血小板恢复正常的时间为开始治疗后的19(9~29)d。1例患儿在治疗9个月后出现复发,再次予糖皮质激素及利妥昔单抗治疗后病情稳定,随访3年以上确诊为系统性红斑狼疮。截至2020年12月1日,随访24(16~57)个月,5例患儿临床症状消失,未次随访血小板计数为159(125~269)×10⁹/L。结论:儿童aTTP患者较为少见,各年龄段均有发病,临床表现以血小板减少及微血管病性溶血为主,血浆ADAMTS13活性及抑制物检测有助于aTTP的诊断。血浆置换及利妥昔单抗治疗有效,该病需长期随诊监测。     

血栓性血小板减少性紫癜1例

患儿，女，2岁，因发热、皮疹20余天、水肿10d入院。20余天前受凉后发热，次日出现全身出血性皮疹，当地医院诊断为特发性血小板减少性紫癜（ITP），予地塞米松治疗10d后，皮疹减少出院。出院后发现患儿双眼睑水肿，渐波及下肢，并伴尿量减少，再次入院，按ITP、过敏性紫癜肾炎予氢化可的松、氨肽素等治疗，效差来我院。病程中无呕吐、腹泻，无黄疸。无抽搐。查体：体温38．3℃，贫血貌，神萎，皮肤弥漫性陈旧性瘀点及瘀斑，双眼睑水肿，腹部膨隆，腹壁水肿，     

血栓性血小板减少性紫癜1例

血栓性血小板减少性紫癜（TTP）是一种血栓性微血管病，其发病率低，误诊率高，预后较差，目前主要治疗手段包括肾上腺皮质激素、输注血浆或血浆置换、脾切除及抗凝等辅助治疗。我科曾遇到TTP 1例，现报告如下。     

儿童血栓性血小板减少性紫癜1例报告

患儿，男，15岁，因发热、乏力、尿色黄伴头晕10天住院。入院前曾在当地医院住院，诊为Evans综合征，给予“强的松15mg37欠／日，安络欣，妥布霉素”等治疗1周，病情无好转。患儿1岁时有类似发作史一次，诊治不祥，后一直未发作。体检：137．8℃，重度贫血，皮肤巩膜中度黄染，淋巴结未及肿大，双下肢皮肤散在针尖大小出血点，胸骨无压痛，肝脾肋下均2cm，质软，无压痛，肾区无叩痛，神经系统检查未发现阳性体征。实验室检查：     

血浆置换治疗血栓性血小板减少性紫癜3例

目的评介血浆置换（PE）治疗儿童血栓性血小板减少性紫癜（TTP）的治疗效果,探讨其治疗机制。方法对3例TTP的学龄儿童,用BaxterBM25机进行2、3次血浆置换,置换量1500～2000mL/次（706代血浆500mL,新鲜冰冻血浆1000～1500mL）。结果治疗后临床症状迅速改善,血浆置换治疗后d5血小板恢复正常。住院9～12d好转出院。结论PE是治疗儿童TTP的一种快速有效的方法。     

水痘并暴发性血小板减少性紫癜1例

患儿 ,女 ,8岁 ,因发热、皮疹 5d ,反复鼻出血 0 .5d入院。 5d前无明显诱因出现发热 ,体温达 39℃ ,面部、躯干见散在皮疹 ,初为红色斑疹 ,渐变为水疱疹 ,伴痒感。 4d后体温下降 ,疱疹结痂。入院当天多次出现鼻出血 ,用纱布填塞不能止血。既往健康。体检 :体温 36℃ ,神清 ,精神差 ,全身皮肤见散在针尖至粟粒大小出血点 ,浅表淋巴结未触及肿大 ,鼻腔见明显血迹 ,口腔黏膜见散在出血点 ,颈无抵抗 ,心肺听诊无异常 ,腹软 ,肝脾未及。血WBC 7.6× 10 9/L ,L 0 .36 9,N 0 .6 31,Hb 12 0 g/L ,RBC 4 .0 5× 10 12 /L ,血小板 2 4× 10 9/L …     

New strategies in diagnosis and treatment of thrombotic thrombocytopenic purpura: case report and review

The pentad of thrombocytopenia, haemolytic anaemia, mild renal dysfunction, neurological signs and fever, classically characterizes the syndrome of thrombotic thrombocytopenic purpura (TTP). TTP usually occurs in adults but also children have been described with this condition. The disorder may take a relapsing course, termed chronic relapsing TTP (CRTTP), which although very rare, may also begin in childhood. Deficiency of a recently identified enzyme, the von Willebrand factor (vWF)-cleaving protease, seems to play a major role in the development of TTP. We report on a 3-year-old boy with a dramatic but typical clinical course of CRTTP. At the time of diagnosis, neurological deficits and multiple cerebral infarctions had already occurred. In plasma, vWF-cleaving protease was completely absent, both during acute TTP and in remission. There was no protease inhibitor detected. Regular infusions of fresh frozen plasma were successfully given for replacement on a prophylactic basis. Conclusion Assay of von Willebrand factor-cleaving protease helps to diagnose a form of thrombotic thrombocytopenic purpura which may be managed by prophylactic treatment with fresh frozen plasma. Received: 13 April / Accepted: 4 May 1999     

Successful treatment of recurrent thrombotic thrombocytopenic purpura with plasmapheresis and vincristine

An adolescent girl with severe thrombotic thrombocytopenic purpura (TTP) remained in a critical condition after 3, weeks of combined treatment with antiplatelet drugs, plasma infusions and plasma exchange. The introduction of vincristine resulted in gradual improvement and eventual complete remission which lasted for 2 years. When she relapsed, immediate improvement was observed with the combined treatment of plasmapheresis and vincristine. She has now been in complete remission again for 10 months. It is suggested that plasmapheresis plus vincristine should be used as the initial treatment for children with TTP.     

ADAMTS13 phenotype in plasma from normal individuals and patients with thrombotic thrombocytopenic purpura

The activity of ADAMTS13, the von Willebrand factor cleaving protease, is deficient in patients with thrombotic thrombocytopenic purpura (TTP). In the present study, the phenotype of ADAMTS13 in TTP and in normal plasma was demonstrated by immunoblotting. Normal plasma (n = 20) revealed a single band at 190 kD under reducing conditions using a polyclonal antibody, and a single band at 150 kD under non-reducing conditions using a monoclonal antibody. ADAMTS13 was not detected in the plasma from patients with congenital TTP (n = 5) by either antibody, whereas patients with acquired TTP (n = 2) presented the normal phenotype. Following immunoadsorption of immunoglobulins, the ADAMTS13 band was removed from the plasma of the patients with acquired TTP, but not from that of normal individuals. This indicates that ADAMTS13 is complexed with immunoglobulin in these patients. The lack of ADAMTS13 expression in the plasma from patients with hereditary TTP may indicate defective synthesis, impaired cellular secretion, or enhanced degradation in the circulation. This study differentiated between normal and TTP plasma, as well as between congenital and acquired TTP. This method may, therefore, be used as a complement in the diagnosis of TTP.     

Chronic relapsing thrombotic thrombocytopenic purpura: three case reports and update of the pathogenesis and therapeutic modalities

Chronic relapsing thrombotic thrombocytopenic purpura (CRTTP) is the rarest type of TTP, usually presenting in childhood. The aetiology is still not fully explained. The disorder is associated with the presence in plasma of unusually large von Willebrand factor (UlvWF) multimers that are especially prominent between episodes. CRTTP can be prevented by periodic plasma transfusions. We report three children with congenital CRTTP who have been successfully treated and maintained in prolonged remission by the prophylactic use of fresh frozen plasma without concurrent plasmapheresis. Two of the patients are sibs. Received: 12 August 1997 / Accepted in revised form: 8 December 1997     

Severe vitamin B-12 deficiency in a child mimicking thrombotic thrombocytopenic purpura

We report a case of severe vitamin B-12 deficiency in a child who had a clinical presentation of hemolysis and thrombocytopenia that suggested the diagnosis of thrombotic thrombocytopenic purpura (TTP) and was associated with decreased ADAMTS13 activity. In this report, we review vitamin B-12 deficiency in children, the relationship between ADAMTS13 activity and TTP and discuss other conditions associated with decreased ADAMTS13 activity.     

Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder of childhood that has clinical and laboratory similarities to other, more common conditions. Prompt recognition is required as delays in therapy are associated with significant morbidity and failure to treat may lead to death. While the principles of treatment have not changed, enormous progress in the genetic and molecular understanding has taken place. Emerging treatment options may offer some hope of improved quality of life in future. We describe a Chinese patient with cTTP which resulted from two previously undescribed mutations in the ADAMTS13 gene. Pediatr Blood Cancer 2012; 59: 1296–1298. © 2012 Wiley Periodicals, Inc.     

系统性红斑狼疮合并血栓性血小板减少性紫癜1 例分析

目的探讨系统性红斑狼疮(SLE)合并血栓性血小板减少性紫癜(TTP)的临床特点、诊断和治疗。方法回顾分析1例重症SLE合并TTP患儿的临床资料,并复习相关文献。结果患儿,女,13岁,以肾病综合征起病,诊断重症SLE、狼疮性肾炎。初治好转后再现头痛、血小板减少、贫血、急性肾损伤及发热。血涂片破碎红细胞2%,诊断合并TTP。经激素冲击、血浆置换、免疫抑制剂等综合性治疗后病情缓解。结论 SLE合并TTP较为少见,病死率高,早期识别、合理治疗可改善预后。     

小儿特发性血小板减少性紫癜的有关临床特点

目的探讨小儿特发性血小板减少性紫癜(ITP)的临床特点。方法对我院收治的255例ITP患儿的临床资料进行分析。结果1、男:女=1.43,中位年龄31个月,2岁以下占47.06%;急性型占91.37%,慢性型占8.63%。2、47.84%有前驱感染病史,31.76%在发病前1~4周有预防接种史。3、病原学检查阳性率73.81%,其中HPVB1945.24%。4、预防接种疫苗中乙肝疫苗34.57%,百白破疫苗24.69%,麻疹疫苗8.64%。5、临床表现94.12%以轻、中度皮肤粘膜出血为主,重度出血仅占5.88%。6、就诊时血小板数量:平均22.47×109/L,≤20×109/L占56.47%。7、骨髓常规涂片巨核细胞总数增多的占77.06%,分类中成熟无血小板产生的巨核细胞数>原始幼稚巨核细胞数>成熟有血小板产生的巨核细胞数>裸核巨核细胞数。8、给予以肾上腺皮质激素为主的治疗,97.42%血小板在2周内达正常,复发率4.29%。9、疫苗相关ITP的中位年龄6月,就诊时平均血小板数量22.3×109/L,95.06%患儿为轻中度出血;骨髓巨核细胞数增多者占75.68%;病原学检查阳性率为85.71%,其中HPVB19占64.29%;93.83%患儿治疗后平均4.90天血小板恢复正常水平,复发率3.7%。结论1、小儿ITP患者大多数为急性型,预后良好。2、病毒感染与小儿ITP关系密切,HPVB19在小儿ITP发病中有重要意义。3、疫苗相关的ITP发生率高于以往报道,除发病年龄小外临床特点与其他ITP相似,相关疫苗中以乙肝、百白破疫苗多见,应引起注意。4、HPVB19阳性患儿临床特点与一般ITP大致相同。5、以肾上腺皮质激素为主的治疗方案治疗小儿ITP疗效显著;大剂量丙种球蛋白和大剂量肾上腺皮质激素对有严重出血或血小板极低的患儿止血效果明显,可以避免血小板输注和相关死亡的发生。