血小板减少伴巨核细胞减少性紫癜8例

血小板减少伴巨核细胞减少性紫癜，其病因复杂，发病机制不明，过去多归为特发性血小板减少性紫癜(ITP)的一种形式，后来有人将其诊断为获得性低巨核细胞血小板减少性紫癜(AATP)。本院从2000年2月～2002年3月，共收治8例外周血血小板减少、骨髓巨核细胞减少或缺如的病例，其中3例患者发热经抗感染治疗后，血小板恢复正     

血小板减少症伴发急性下壁心肌梗死并文献复习1例

随着年龄的增加,血管防御机制的变化,感染及炎症刺激等原因引起血管内皮功能受损,使得血小板在受损的内皮细胞处聚集,引起急性血栓形成,阻塞冠状动脉管腔,是急性心肌梗死(AMI)发生的主要机制,故血小板在AMI发病中起着重要作用[1].     

肝素诱导的血小板减少2例并文献复习

目的对2例使用低分子肝素钙后出现血小板减少的患者进行临床分析，以提高对该病的认识。方法回顾性分析及相关文献的复习。结果在使用肝素或低分子肝素的过程中可能引起血小板减少，严重者可出现弥散性血管内凝血（DIC）并危及生命，需高度重视。近年的研究认为，肝素可以通过免疫机制使血小板减少。结论在应用肝素或低分子肝素时应警惕该类药物不良反应的发生，一旦出现需要及时停用肝素或低分子肝素并对症处理。     

Wiskott-Aldrich综合征合并克罗恩病一例并文献复习

目的 ：分析1例克罗恩病合并Wiskott-Aldrich综合征（Wiskott-Aldrich syndrome, WAS）患儿的临床、结肠镜表现及其基因特征,为临床诊断提供参考。方法：回顾性分析1例克罗恩病合并WAS患儿的临床表现和生化指标、结肠镜检查、基因检测结果以及其治疗、随访情况,并在PubMed、中国知网、万方数据库中检索相关文献,综合分析。结果：患儿为6岁男童,表现为反复腹痛、便血1个月及肛周脓肿半个月,并从婴儿期出现血小板计数减少。实验室检查提示患儿存在中度贫血（血红蛋白70 g/L）,血小板（77×109/L）降低,红细胞沉降率（71 mm/h）升高,粪钙卫蛋白（大于1 800μg/g）升高;电子结肠镜检查提示结肠多发溃疡,肠镜活检病理提示末端回肠及全结肠黏膜慢性活动性炎,部分伴局灶微脓肿和隐窝脓肿。该患儿被诊断为克罗恩病。基因检测显示其WAS基因外显子8上剪接位点出现半合子突变（c.777+3＿777+6del GAGT）,根据美国医学遗传与基因组学学会指南,该突变为可能致病性突变,故确诊为克罗恩病合并WAS。文献复习共检索到9篇炎症性肠病（inflammatory...     

恶性肿瘤继发性血栓性血小板减少性紫癜一例及文献复习

1临床资料 患女，43岁。因“腰痛2个月，牙龈出血、全身瘀斑4d”入院。患2005年5月份始出现腰痛，口服“莫刻林”腰痛好转，7月份再次出现腰痛加剧伴发热，体温38．5℃左右，给予抗感染治疗无效，加用止痛药“来欣”治疗有轻度好转。入院前4d患始出现牙龈出血、全身瘀斑，伴头痛、嗜睡、发热。门诊查血常规示：WBC5．7×10^9／L，HGB 91g／L，PLT58×10^9／L，以“贫血伴血小板减少原因待查”收入住院。[第一段]     

低分子肝素诱导血小板减少症2例报告并文献复习

肝素是作为预防和治疗血栓性疾病的常用药物已广泛应用于临床,其各种不良反应也成为临床不可忽视的问题,其中最为严重的并发症是肝素诱导的血小板减少症(heparin-in-duced thrombocytopenia,HIT)。现报告2例并结合文献复习如下。     

合并EDTA依赖性假性血小板减少症的布鲁菌病1例及文献复习

本文报道1例布鲁菌病合并乙二胺四乙酸（EDTA）依赖性假性血小板减少症（pseudo thrombocytopenia,PTCP）病例,并结合文献复习,总结该病例诊治中的启示.     

急性心肌梗死伴假性血小板减少1例并文献复习

假性血小板减少,即血小板数量本属正常,但检测结果较低.这是Gowland于1969年首先报道,1973年被Ghreiner 正式命名.以后有较多的报道,此种错误出现率为3%～23%,常见于肝病、癌症或手术后应用大量抗生素的患者,个别健康人也可出现.我们报道1例急性心肌梗死患者合并假性血小板减少并做文献复习.     

恙虫病并血小板减少82例

恙虫病又称丛林斑疹伤寒,是由恙虫病东方立克次体所致的急性自然疫源性传染病.它是通过恙虫幼虫叮咬而传播.经典的临床表现是以叮咬部位出现焦痂或溃疡,高热、淋巴结肿大、皮疹及周围血白细胞减少等为特征.但是近年来恙虫病的临床表现出现了许多新的变化,已有不少人在关注这个问题,比如恙虫病并感染中毒性肝损害r1-3]、感染中毒性肺损伤[4-5]等,已经有大量文献报道,但恙虫病并血小板减少报道很少.我们对我院各科2002年至2007年收治的恙虫病共126例进行了回顾性分析,发现有92例存在血小板减少.现报告如下.     

骨髓涂抹细胞增多的血栓性血小板减少性紫癜一例报告

<正>血栓性血小板减少性紫癜(thrombotic thrombocytic purpura,TTP)为一组微血管血栓出血综合征,是一种罕见的严重威胁生命的临床急症,流行病学国内没有统计,国外报道的发病率约为3.7/106[1],主要临床表现有血小板减少、微血管病性溶血性贫血(microangiopathic hemolytic anemia,MAHA)、波动的神经系统症状、肾功能损害和发     

Vancomycin-induced thrombocytopenia in endocarditis: A case report and review of literature

BACKGROUNDThrombocytopenia is a serious complication in the medical practice of numerous drugs. Vancomycin is frequently used for the prophylaxis and treatment of suspected or identified methicillin-resistant positive infections. Several cases with vancomycin-induced thrombocytopenia (VIT) have been reported. However, these have rarely been extensively reviewed. The present report describes a case of VIT in endocarditis, and reviews all VIT cases reported in the literature.CASE SUMMARYA 26-year-old male diagnosed with infective endocarditis was admitted. The patient was treated with multiple drugs, including vancomycin, which was initially intravenously given at 1000 mg every 12 h and subsequently at 500 mg every 8 h on day 3. On day 11, the platelet count decreased to 51 × 10⁹/L, vancomycin was switched to 500 mg every 12 h, and platelet transfusion was given. On day 17, the platelet count dropped to 27 × 10⁹/L, and platelet transfusion was administered again. On day 23, vancomycin was adjusted to 500 mg every 8 h as the trough concentration dropped to the minimum effective concentration. On day 33, the platelet count declined to approximately 40 × 10⁹/L. After platelet transfusion, the platelet count rebounded to 90 × 10⁹/L on day 35 but dropped again to 42 × 10⁹/L on day 43. Based on the time-to-platelet count curve and Naranjo’s Adverse Drug Reaction Probability Scale score, VIT was suspected. After vancomycin discontinuation and platelet transfusion, the platelet count gradually normalized. CONCLUSIONThe diagnosis of VIT can be achieved through the time-to-platelet count curve and Naranjo’s Adverse Drug Reaction Probability Scale score. The platelet count cannot be normalized simply by platelet transfusion alone, and vancomycin discontinuation is essential.     

Severe digital ischemia coexists with thrombocytopenia in malignancy-associated antiphospholipid syndrome: A case report and review of literature

BACKGROUNDParaneoplastic syndromes are characterized by atypical clinical manifestations. Several reports of hepatocellular carcinoma (HCC) paraneoplastic phenomena have been reported. They usually manifest as one type in an individual, but it is not common for the two clinical manifestations to occur simultaneously.CASE SUMMARYA 52-year-old female patient was admitted to hospital with pale skin and numbness of the second to fifth fingers in the left hand, which rapidly developed into severe digital ischemia. Computed tomography angiography revealed uneven thickness of the left ulnar artery with severe local luminal stenosis. Blood analysis during hospitalization showed persistent mild to medium thrombocytopenia and insensitive to hormonal therapy. Antiphospholipid antibody testing showed high titer of IgG anticardiolipin antibodies (aCLs), IgA aCLs, IgG anti-β2-glycoprotein-I (anti-β2 GPI), and IgA anti-β2 GPI. The exact diagnosis was HCC when the high a-fetoprotein levels, computed tomography findings, and the history of chronic hepatitis B came together. This was a rare case of coexisting manifestations as presenting symptoms of malignancy-associated antiphospholipid syndrome. The patient underwent several operations, antithrombotic treatments and hormonal therapy. However, the patient refused chemotherapy and died 8 wk after diagnosis.CONCLUSIONThis report highlights the importance of atypical clinical changes that could alert the physicians to vigilance for a concomitant underlying malignancy.     

Bone marrow metastatic neuroendocrine carcinoma with unknown primary site: A case report and review of the literature

BACKGROUNDMetastatic neuroendocrine carcinoma (NEC) of bone marrow is uncommon. Here, we report a case of bone marrow metastatic NEC with an unknown primary site.CASE SUMMARYA 73-year-old Chinese woman was admitted to our hospital because marked chest distress and asthma lasting 1 d on March 18, 2018. She was initially diagnosed with pulmonary infection, cardiac insufficiency, thrombocytopenia and severe anemia. Following treatment with antibiotic therapy, diuresis and blood transfusion, the patient’s symptoms greatly improved. After bone marrow examinations, the patient was diagnosed with bone marrow metastatic NEC, bone marrow necrosis (BMN) and secondary myelofibrosis (MF). Further imaging workup did not show the primary tumor, we presumed that the primary site might regress spontaneously or merely be unexplored due to lack of positron emission tomography with gallium peptide. Everolimus (10 mg/d) was added to the treatment and the best supportive and symptomatic therapies were also administered. Unfortunately, the patient’s condition continued to deteriorate and she died on May 15, 2018.CONCLUSIONBone marrow invasion of NEC is rare and our patient who suffered from bone marrow metastatic NEC as well as secondary BMN and MF had an extremely poor prognosis. Bone marrow biopsy plays an important role in the diagnosis of solid tumors invading bone marrow.     

一个戈谢病Ⅱ型中国家系GBA基因突变分析及文献复习

目的 鉴定一个戈谢病Ⅱ型中国家系中GBA基因的致病性突变。方法 收集1例戈谢病Ⅱ型10个月女性患儿的临床及家系资料,提取该先证者及其父母外周血DNA,采用PCR扩增GBA基因的11个外显子及剪接位点序列,对PCR产物进行直接测序;对先证者及其父亲的包含第6外显子变异位点的基因序列进行克隆测序。以 “Gaucher disease”“GBA” 和“mutation”为检索词对dbSNP、ClinVar、HGMD和PubMed等数据库进行检索,收集并分析检索到的携带GBA c.680_681delATinsGG突变的病例资料。结合该家系先证者的临床资料以及美国医学遗传学与基因组学学会和分子病理学协会（ACMG/AMP）的指南进行罕见突变的致病性鉴定。结果 该家系先证者GBA基因有2个复合杂合性突变：遗传自父亲的第6外显子的c.680_681delATinsGG（p.N227R）突变和遗传自母亲的第10外显子的c.1448T > C（p.L483P）突变。克隆测序验证了先证者及其父亲的c.680_681位点有2种单体型：突变的GG和正常的AT。c.680_681delATinsGG为罕见突变,尚未有研究对该突变进行致病性鉴定。随访显示先证者有运动、智力进行性减退以及惊厥发作和喂养困难,于出生后16个月因喂养时呛咳、窒息死亡。目前在数据库仅检索到2例患者携带该突变,其中1例患病资料缺乏,另外1例为中国戈谢病Ⅱ型患儿。根据ACMG/AMP的指南,该变异分类为“致病性的”。结论 GBA基因的c.680_681delATinsGG和c.1448T > C复合杂合性突变导致该家系的先证者患病,c.680_681delATinsGG为致病性突变,c.680_681delATinsGG/c.1448T > C基因型与戈谢病Ⅱ型相关。     

Cowden's disease: A case report and literature review

Cowden's disease, or multiple hamartoma syndrome, is an uncommon condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. We describe a 51-year-old man with hyperplastic polyposis of the entire alimentary tract as the most prominent feature of this disease. We also present a review of 85 cases of this entity as reported in the English medical literature, and summarize the pertinent findings.     

呼吸系统Whipple病1例并文献复习

目的 为进一步提高对罕见病种Whipple病的认识,增强临床医生对疑难病例的诊治能力。方法 报道1例呼吸系统Whipple病的临床特点及诊治过程,并复习文献加以讨论。结果 Whipple病可累及多系统,极少累及肺部,且症状不典型,可表现为发热、干咳、乏力、胸痛、呼吸困难等,胸部CT表现以多发结节和间质性肺病为主,伴有纵隔淋巴结肿大或胸腔积液。通过应用二代基因测序技术(NGS)检测出惠普尔养障体(Tropherymawhippleii, TW)。结论 Whipple病病程隐匿,呼吸系统临床表现不典型,一般实验室及影像学检查均无特异性,确诊有赖于NGS。经给予头孢曲松钠联合多西环素进行治疗,症状缓解,预后良好。     

异基因骨髓移植后巨细胞病毒视网膜炎一例报告并文献复习

目的通过1例异皋因骨髓移植后巨细胞病毒视网膜炎(CMVR)转归及献复习，认识CMVR。方法痫例分析及献复习结果患在使用大量多利，免疫抑制剂之后出现严重全身巨细胞病毒(CMV)感染，眼底检查有沿血管分布的出血及大量渗出，抗CMV治疗后好转。结论异基因骨髓移植后患免疫功能低卜，血、尿CMV检测持续阳性合并眼部症状及典型眼底改变可诊断CMVR。