NEONATAL PURPURA FULMINANS DUE TO HOMOZYGOUS PROTEIN C DEFICIENCY

Severe and recurrent purpura fulminans developed in a Turkish boy at 1 week of age. Initial coagulation studies performed were compatible with disseminated intravascular coagulation. Subsequent investigations showed that the patient had homozygous and his healthy parents had heterozygous protein C deficiency. The episodes of purpura fulminans were controlled by infusions of fresh frozen plasma and heparinization. Oral anticoagulant therapy was given in the symptom-free period.     

Purpura of the chin: Two consecutive cases

Two healthy children, a 10-year-old boy and a 13-year-old girl, both with no previous medical history, unrelated, presented with pinpoint purpura of the chin and the upper lip. It had appeared 2 days before and extended from the chin to the lower lip. Neither had fever or recent trauma, nor had they taken any medication. Their vital parameters and physical examination were normal. Their peripheral blood cell counts and coagulation parameters were normal. A week later, upon the follow-up consultation, the purpuric lesions had disappeared and both children reported they had played the glass game.     

小儿血液系统疾病人细小病毒B_(19)感染的研究

目的:探讨我国西北地区血液系统疾病患儿人细小病毒B19(HPV B19)感染情况及两者的相关性。方法:对特发性血小板减少性紫癜、再生障碍性贫血和白血病患儿的外周血分别采用PCR方法检测HPV B19-DNA和ELISA方法检测HPV B19-IgG。结果:特发性血小板减少性紫癜患儿HPV B19-IgG阳性率为43.08%(28/65),白血病患儿HPV B19-IgG阳性率为41.07%(46/112),病例组较对照组比较有极显著性差异(P<0.01);再生障碍性贫血患儿HPV B19-IgG阳性率为21.43%(6/28),病例组较对照组比较有显著性差异(P<0.05)。65例特发性血小板减少性紫癜患儿HPV B19-DNA阳性率为40.00%(26/65);28例再生障碍性贫血患儿HPV B19-DNA阳性率为21.43%(6/28);112例白血病患儿HPV B19-DNA阳性率为27.68%(31/112);对照组HPV B19-DNA检测均为阴性。结论:HPV B19感染与我国西北地区部分血液系统疾病患儿发病相关。     

雷公藤多苷联合常规治疗对紫癜性肾炎患儿血清学指标的影响

目的:研究雷公藤多苷联合常规治疗对紫癜性肾炎患儿血清学指标的影响.方法:选择2011年3月～2014年6月期间在我院儿科接受治疗的紫癜性肾炎患儿进行研究,随机分为常规治疗组和雷公藤组,检测两组患者的免疫标志分子、细胞因子以及蛋白酶分子含量.结果:(1)免疫标志分子:与常规治疗组血液中免疫标志分子的含量比较,雷公藤组血液中CD28、B7-2、CD54、CD11a、CD11b、CD18的含量较低;(2)细胞因子:与常规治疗组血清细胞因子含量比较,雷公藤组血清中肿瘤坏死因子-a(TNF-α)、转化生长因子-β1(TGF-β1)、胰岛素样生长因子(IGF1)、胰岛素样生长因子结合蛋白IGFBP-3、肝细胞生长因子(HGF)和结缔组织生长因子(CTGF)含量较低;(3)蛋白酶分子:与常规治疗组血清蛋白酶分子含量比较,雷公藤组血清中基质金属蛋白酶2、9(MMP2、MMP9)、胱蛋白酶C(Cys C)含量较低,TIMP1、β1,3半乳糖基转移酶(β1,3GT)、Cosmc含量较高.结论:雷公藤多苷联合常规治疗有助于抑制自身免疫反应,减少紫癜性肾炎相关细胞因子产生,调节蛋白酶平衡,是治疗紫癜性肾炎的理想方法.     

104例紫癜性肾炎临床病理及免疫病理的研究

通过对１０４例紫癜性肾炎患者临床、病理及免疫病理的分析，探讨三者之间关系。方法对１０４例１２－４０岁ＨＳＰＮ患者进行临床分型，病理分级和免疫产现理分型，分析三者间内在联系，同时对间质面积及间质内ＣＤ４＾＋，ＣＤ＾＋８细胞进行了测定。结果：１０４例ＨＳＰＮ患者中蛋白尿、镜下血尿和肉眼血尿的发生率分别为９９％、９４．２％、４３．３％；消化道症状及关节痛的发生率为４３．３％和２８     

老年特发性血小板减少性紫癜患者的临床观察

目的 总结老年特发性血小板减少性紫癜(ITP)患者的发病特点、治疗及临床转归.方法 回顾分析1992-2007年我院住院治疗的老年ITP患者的临床资料,并与同期住院的非老年患者的临床资料进行对照.结果 老年患者(老年组)43例,男性16例,女性27例;随访时间1个月～15年,存活35例.43例患者中,7例血小板持续(30～50)×109/L,出血不显著,未予以治疗;36例首选泼尼松治疗,敏感型25例(69.4%),以完全反应或部分反应健康存活;脾切除或栓塞4例,3例血小板恢复正常;对于泼尼松治疗不敏感者分别使用免疫抑制剂,其中硫唑嘌呤21例,环孢A23例,长春新碱3例及环磷酰胺9例,硫唑嘌呤、环孢A疗效优于长春新碱及环磷酰胺.进展为难治性ITP5例,难治率为13.9%;进展为未定性单克隆免疫球蛋白增多症(MGUS)和淋巴瘤各1例.死亡8例,死于外伤感染引发的心肺功能衰竭4例,肿瘤3例,脑出血1例.结论 老年ITP患者临床表现不典型,致命性出血的风险低,对免疫抑制剂的反应与非老年组近似,治疗宜个体化.     

儿童过敏性紫癜901例临床分析

目的 探讨近年来儿童过敏性紫癜(HSP)患病率和临床表现特点的变化.方法 回顾性分析我院儿科1995年1月至2005年12月住院的901例过敏性紫癜患儿的临床资料.结果 ①1995-2005年每年HSP住院构成比依次为23/2165(1.06%)、29/2098(1.38%)、24/1973(1.22%)、39/2008(1.94%)、54/2433(2.22%)、86/2611(3.29%)、94/2724(3.45%)、99/3014(3.28%)、138/2900(4.76%)、143/3177(4.50%)、172/3500(4.91%),呈逐年明显增高趋势;②48.6%的患儿有前驱感染史,4个家庭分别有2～3个亲属先后患本病.③部分患儿非典型起病,165例(18.31%)起病时皮肤无紫癜,其中90例以消化道症状起病,63例以关节症状起病,6例以肾受累症状起病,1例中枢神经症状起病,5例其他症状起病;14例以消化道症状起病的HSP患儿经胃镜检查呈胃、十二指肠黏膜小血管炎表现而于皮肤紫癜出现前拟诊.④95例(10.5%)有皮肤、关节、消化道、肾脏以外的系统受累,其中中枢神经系统受累30例,男性生殖器受累11例,胰腺受累3例,心脏受累47例,1例肺出血.结论 HSP患病率近年来有明显升高趋势.其家族集聚发病、不典型起病表现及多系统损害尤其是脑、肺、胰腺、心脏等重要脏器的受累值得重视.胃肠镜检查可助消化道症状起病的非典型HSP的早期诊断.     

Effective and safe off-label use of caplacizumab treatment in a middle-aged obese male

This study shows clinical efficacy and safety profile of an off-label use of caplacizumab for the treatment of immune-mediated thrombotic thrombocytopenic purpura in a middle-aged obese male patient manifesting aphasia, weakness and unconsciousness. Routine blood tests revealed haemolytic anaemia, severe thrombocytopenia (platelet count = 20 × 10⁹/L) and moderate creatinine increase. Diagnosis was based on the clinical judgement and laboratory determinations (undetectable ADAMTS13 activity and presence of anti-ADAMTS13 antibodies). The patient underwent plasma-exchange and an adjunctive treatment with prednisone (1 mg/Kg/day), but the occurrence of a refractory and exacerbated form of disease suggested also using rituximab (375 mg/m² weekly for 4 weeks) and caplacizumab as salvage treatments. The caplacizumab was given at 10 mg/day subcutaneously without the first intravenous bolus. Because von Willebrand factor inhibition, platelet count recovery and remission of symptoms were achieved, use of caplacizumab with this scheme appeared to be as effective as the approved one. Although this is an off-label use, this case highlights the potential of this new treatment, in terms of drug's efficacy and safety.     

血清补体C1q、RBP及尿mALB联合检测在儿童过敏性紫癜早期肾损伤中的临床意义

目的探讨血清补体C1q、视黄醇结合蛋白(RBP)及尿微量清蛋白(mALB)联合检测在儿童过敏性紫癜(HSP)早期肾损伤中的临床意义。方法选取该院2017年7月至2018年12月住院的70例HSP患儿作为观察组,其中单纯型HSP 50例,合并紫癜性肾炎(HSPN)20例;另选取同期该院健康体检儿童30例作为对照组。对所有受试儿童血清补体C1q、RBP及尿mALB水平进行比较分析;同时对观察组治疗前后血清补体C1q、RBP及尿mALB水平进行比较分析;并对HSPN患儿血清补体C1q、RBP及尿mALB单项检测阳性率及联合检测阳性率进行比较。结果与对照组比较,HSP组及HSPN组血清补体C1q水平均升高,HSPN组与对照组差异有统计学意义(P<0.05),但HSP组与对照组差异无统计学意义(P>0.05);与对照组及HSP组比较,HSPN组血清RBP及尿mALB水平差异均有统计学意义(P<0.05);与对照组比较,HSP组尿mALB水平差异有统计学意义(P<0.05),但血清RBP水平差异无统计学意义(P>0.05)。HSPN患儿血清补体C1q、RBP及尿mALB三者联合检测阳性率明显高于单项检测,差异均有统计学意义(P<0.05)。观察组治疗后血清补体C1q、RBP及尿mALB水平与治疗前比较均下降,但三者水平仍高于对照组,差异均有统计学意义(P<0.05)。结论血清补体C1q、RBP及尿mALB联合检测在儿童HSP早期预示肾损伤中有重要临床指导意义。     

利妥昔单抗在成年人原发性免疫性血小板减少症中的应用进展

原发性免疫性血小板减少症(ITP)是临床上常见的出血性疾病,以抗体介导的血小板破坏及血小板生成不良为特征.原发性ITP的初始治疗方案包括:糖皮质激素及静脉输注丙种球蛋白,而脾切除术、利妥昔单抗、血小板生成素(TPO)受体激动剂等常被用于治疗难治性及慢性原发性ITP患者.笔者拟就利妥昔单抗在成年人原发性ITP中的临床应用及进展进行综述.