病例分享:一例典型的噬血细胞综合征报告

2018-04-22 金瑾 检验视界网

噬血细胞综合征(hemophagocytic syndrome,HPS)又称噬血细胞性淋巴组织细胞增多症(hemophago—cytic lymphohistiocytosis,HLH),是一种由遗传性或获得性免疫调节功能异常导致的以病理性炎症反应为主要特征的综合征,临床主要以不明原因发热,肝脾肿大,两系或三系血细胞减少,骨髓、肝、脾、淋巴结组织发现噬血细胞以及多脏器衰竭为特征。现笔者在一例青少年

噬血细胞综合征(hemophagocytic syndrome,HPS)又称噬血细胞性淋巴组织细胞增多症(hemophago—cytic lymphohistiocytosis,HLH),是一种由遗传性或获得性免疫调节功能异常导致的以病理性炎症反应为主要特征的综合征,临床主要以不明原因发热,肝脾肿大,两系或三系血细胞减少,骨髓、肝、脾、淋巴结组织发现噬血细胞以及多脏器衰竭为特征。现笔者在一例青少年女性的骨髓细胞学检查中检出形态典型的噬血细胞,考虑对本病的诊断具有重要意义,现报告如下。

临床病例

患者女性,16岁,7天前无明显诱因出现发热,最高39.5℃,热型不详,伴胸闷,伴恶心、纳差,无呕吐,无咳嗽、咳痰、咯血,呼吸困难,就诊于县医院,诊断为“流行性感冒”,行输液治疗(喜炎平、青霉素等),效果差。3天前转至市医院,CT提示:重症肺炎(未见单),给予输液治疗(具体不详),仍持续发热,并出现呼吸困难、咳嗽、咳痰等症状。2018年1月7日以“重症肺炎”收入我院ICU。

患者入院血常规检查结果(如下图),提示患者三系减少,特别是血小板和血红蛋白呈进行性下降。



生化检查结果(如下图),提示有肝肾功能损伤,其中乳酸脱氢酶显著升高。



血凝检查结果(如下图),提示患者凝血功能差,FIB显著降低。



铁蛋白和空腹血脂检查结果(如下图),提示患者高铁蛋白和甘油三酯。



从以上检查结果可以看出该患者血细胞三系减低,生化检查示肝肾损伤,高铁蛋白和甘油三酯,低纤维蛋白原,结合其不明原因发热的临床症状,考虑其嗜血细胞综合征。对患者行骨髓穿刺,结果显示易见吞噬细胞,胞内吞噬幼红细胞和血小板(如下图)。




满足以下2条之一者即可建立HPS诊断:

1.符合HPS的分子诊断

2.满足以下8条中的5条诊断标准

(1)原始诊断标准(所有患者均需要评估)

发热

脾大

血细胞减少(影响2或3系外周血细胞)

血红蛋白<90 g/L(新生儿:血红蛋白<100 g/L)

血小板<100×10^9/L

中性粒细胞<1.0×10^9/L

高三酰甘油血症和(或)低纤维蛋白原血症

禁食后三酰甘油≥3.0mmol/L(≥2.65 g/L)

纤维蛋白原≤1.5 g/L

骨髓,脾或淋巴结中发现噬血细胞现象而无恶变证据

(2)新诊断标准

NK细胞活性减低或缺乏(根据当地实验室指标)

铁蛋白≥500ug/L

可溶性CD25(slL-2r)≥2 400 U/mL

讨论

上述病例比较典型,患者就诊时的临床表现和实验室检查结果都明显提示噬血细胞综合征,同时在骨髓细胞学检查中找到了典型、大量的噬血细胞,诊断明确,可惜患者病情进展迅速,症状持续加重,入院一个星期后没能挽救成功。噬血细胞综合征起病隐匿,发展迅速,临床表现及医技检查缺乏特异性,导致该病诊断困难,极易漏诊误诊,病人致死率高,希望医务工作者能够提高对该病的认识,当病人出现持续发热,肝脾肿大和血细胞三系减少时,应当怀疑噬血细胞综合征,尤其是伴有高铁蛋白和高脂血症时。多一份警惕,多一份思考,就可能多挽救一条生命。

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    2018-04-29 山之子

    学习学习一下.受教了!谢谢分享!

    0

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    2018-04-22 三生有幸9135

    学习一下谢谢分享

    0

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系统性红斑狼疮(SLE)是一种多发于青年女性的严重疾病。过去,该病的死亡率较高,但随着这些年诊疗水平的提高,该病预后已明显改善。然而激素治疗会带来包括肥胖在内的多种副作用,让女孩儿们必须为了生命而放弃这个年龄的美丽。 这个病例的患者是一个27岁的年轻姑娘,毕业没几年,在一家互联网公司工作。但是大约半年前,厄运悄然而至,她在家里突然出现发热的情况、最高约38℃,且伴有乏力、关节疼痛及肌肉酸

病例分享:心梗之外的无声杀手 ——从1例跌宕起伏的急性胸痛病例说开去

急性胸痛是急诊内科最常见的疾病。调查发现,急性胸痛在门诊接诊的患者中占20%,在救护车接诊的患者中占69%,在急诊室接诊的患者中占45%。对于急性胸痛首先应明确是否由潜在致死性疾病引起,如急性心肌梗死(AMI)、主动脉夹层(AD)、急性肺栓塞和张力性气胸等,需要在短时间内作出恰当诊断和处理。若误诊或漏诊,会导致严重后果。

病例:高原上10年死亡率高达94%的“虫癌”

寄生虫病,对于生活在沿海地区的人来说仿佛是遥远的传说。但是因为暂时的不平衡发展,一种可怕的寄生虫病多年来一直在草原上蔓延。下面就是一例来自藏区的案例。

病例分享:一例小儿人芽囊原虫案例

2018年3月15日,体液室像往常一样忙碌着,粪便常规岗的同事在镜检中有异常的发现,高倍镜下找到较多大小和白细胞差不多但又有较大差别的异常东西,如下图:

罕见病例:一例特殊的异位妊娠

这是去年的一份病例。患者是由急诊转上来的,平车推入,侧身捂着下腹。当时,患者面色苍白,神情痛苦,询问病情也只是哼哼着说肚子疼。转移到检查室上后,我让她保持平卧,按压了一下她的腹部,右下腹有明显压痛反跳痛。腹部叩诊发现移动性浊音可疑。 妇科专科检查:外阴发育正常,已婚未产式,阴道畅,正常分泌物,宫颈质中,常大,子宫前位,常大,质中,漂浮感,双附件区增厚,压痛(腹壁对抗)。后穹窿稍饱满,触痛,以右侧

病例分享:一例疑似隐匿性乙型肝炎的病例分享

某日老师发报告时发现一罕见病例,怀疑该患者可能为隐匿性乙型肝炎,于是我们开始查病历、看文献,想要研究透彻这一现象的本质,下面让我们带着几个问题来看这篇文章。