从贫血浅谈疾病的病因诊断20121024

1、Department of HematologyDepartment of HematologyThe First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC1温州医学院附属第一医院血液科梁彬Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC病因诊断概述病因诊断概述贫血概述及病因诊断的基本思路贫血概述及病因诊断的基本思路病

2、例讨论病例讨论2Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCv疾病的治疗分为对症治疗和病因治疗，其中病因治疗是根本，只有明确病因，才能制定科学、适当治疗的方案。v医学基础课程，如：生理学、生物化学、病理生理学为我们理解疾病病因打下很好的基础。3Department of Hematology Department of Hematology The First Affiliated Hospita

3、l of WMCThe First Affiliated Hospital of WMC确诊的三大支柱1.病史2.体格检查3.辅助检查4Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC诊断过程的重要原则诊断过程的重要原则1.病史和详尽的临床检查是相当重要的；2.首先考虑常见病、多发病3.危险的疾病在诊断的开始就不要忽视；4.要尽量拓宽思路，避免过于狭隘。5Department of Hematolog

4、y Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC诊断过程图解6病史收集、整理一般情况的评价（拟诊或确诊）经验直觉知识诊断治疗观察仪器设备附加检查治疗过程观察治疗观察Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC病因诊断概述病因诊断概述贫血概述及病因诊断

5、的基本思路贫血概述及病因诊断的基本思路病例讨论病例讨论7Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC贫血是一种疾病的诊断吗？v贫血“症”是血液科门诊最常见的主诉之一，也是许多系统性疾病的全身表现之一v不是！v贫血是一个需要解释的实验室异常8Department of Hematology Department of Hematology The First Affiliated Hospital

6、of WMCThe First Affiliated Hospital of WMC9贫血的定义v人体外周血红细胞容量的减少，低于正常范围下人体外周血红细胞容量的减少，低于正常范围下限的一种常见的限的一种常见的临床表现临床表现。临床常以血红蛋白浓度代替红细胞容量。临床常以血红蛋白浓度代替红细胞容量。Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC Department of Department of

7、 HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCDepartment of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC12Department of Department of HematolofyHematolofy The First Affiliated Hospital of W

8、MCThe First Affiliated Hospital of WMC13v原发病的临床表现；原发病的临床表现；v贫血本身引起的症状；贫血本身引起的症状；v由于含铁酶活力降低引起的症状。由于含铁酶活力降低引起的症状。 粘膜粘膜 口、舌炎、舌乳头萎缩、吞咽困难口、舌炎、舌乳头萎缩、吞咽困难（Plummer-VinsonPlummer-Vinson综合征）外胚叶外胚叶 皮肤、毛发、指甲皮肤、毛发、指甲神经系统神经系统 神经痛（以头痛为主）、末梢神经炎、精神、行为方面的神经痛（以头痛为主）、末梢神经炎、精神、行为方面的异常，例如注意力不集中，易激动、精神迟滞和异食癖。异常，例如注意力不集中，易

9、激动、精神迟滞和异食癖。Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC14舌炎舌炎反甲反甲Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC15Department of Department of Hemato

10、lofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC16正常红细胞正常红细胞缺铁性贫血的红细胞缺铁性贫血的红细胞Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC17Department of Department of HematolofyHematolofy The First A

11、ffiliated Hospital of WMCThe First Affiliated Hospital of WMC18Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC19Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital

12、 of WMC20Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCDepartment of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCDepartment of Department of HematolofyHematolofy

13、The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC23Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC24Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliat

14、ed Hospital of WMC25Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCDepartment of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCDepartment of Department of Hematolofy

15、Hematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC28Department of Department of HematolofyHematolofy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC29v红细胞渗透性增高红细胞渗透性增高- -遗传性球形红细胞增多症遗传性球形红细胞增多症Department of Hematology Department of Hematology

16、The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC诊断步骤1.是否存在贫血以及程度2.贫血的分类形态学分类骨髓反应性分类3.病因诊断30诊断思维：必须密切结合病史、体检和实验室检查，并按不同人群的疾病谱从常见病到罕见病，切忌先入为主。 病因诊断是临床医师诊断的终极目标！Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of

17、 WMC贫血的临床表现v血红蛋白的生理功能：携氧【1gHb1.34 ml O2】v临床表现呈非特异性，以缺氧为基础，皮肤粘膜色泽变化为特征v影响临床表现的因素病因血容量速度机体代偿和耐受程度31Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC32血常规v最基本的血液学检查：RBC、HB、HCT。v红细胞指数：MCH= MCV=MCHC=(%)100)/(HCTdLgHb）uLRBCLgHb/10()/

18、(6)/10(10(%)6uLRBCHCT一个提醒：血常规国际单位和常用单位的转换Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC33贫血程度的判断分级分级 血红蛋白（血红蛋白（g/Lg/L） 临床表现临床表现 轻度轻度 1201209191症状轻微症状轻微 中度中度 90906161体力劳动后感到心悸、气短体力劳动后感到心悸、气短 重度重度 60603131卧床休息时也感心悸、气短卧床休息时也感心悸

19、、气短 极度极度 3030常合并贫血性心脏病常合并贫血性心脏病 知识点：贫血临床表现的轻重不仅与血红蛋白浓度有关，更取决于血红蛋白下降的速度、机体代偿能力和耐受程度。Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC34Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe Fir

20、st Affiliated Hospital of WMCDepartment of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC36如何寻找病因线索？v病史：全面深入现病史：贫血发生时间、速度、程度、并发症、诱因、干预治疗的反应；既往史：以往是否诊断过贫血、慢性疾病史、手术史、服药史个人史：饮食史、排便习惯、饮酒史、危险因素暴露史月经生育史家族史：遗传背景知识点：询问病史要特别注意原发病症状、排便情况、服药史、饮食营养史、

21、月经生育史、毒物接触史和家族史。小常识：每次月经周期约失血3050毫升，失铁量约1525毫克； 妇女在整个妊娠期所需铁的总量约为925mg，哺乳妇女每天需求铁24mg/dDepartment of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC37如何寻找病因线索？ v体格检查：全面系统生命体征：TPR一般情况：营养、面容心脏贫血貌皮肤出血点巩膜黄染浅表淋巴结肝脾肿大毛发、反甲、舌像直肠指检Department of Hema

22、tology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC38如何寻找病因线索？v实验室检查：循序渐进血常规（含网织红细胞计数）血涂片血生化：肌酐、钙、总胆、直胆、乳酸脱氢酶、总蛋白和白蛋白进一步的检查骨髓检查铁代谢指标、叶酸和B12水平、血红蛋白电泳、Coombs试验等一个提醒：选择覆盖每一个可能病因的“霰弹枪”式检验不仅浪费，而且提示该医生缺乏思路？！Department of Hematology Department of Hematol

23、ogy The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC外周血涂片v观察制作良好的血涂片是关键，可能因此而确诊。v观察内容：红细胞形态、染色、细胞内包涵体、白细胞和血小板、异常细胞。39球形红细胞镰刀状红细胞缗钱样红细胞Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC骨髓检查v骨髓穿刺：骨髓细胞增生程度、细

24、胞成分、比例和形态变化。v骨髓活检：造血组织的结构、增生程度、细胞成分和形态变化。v必须注意：骨髓取样的局限性。40Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC病因诊断概述病因诊断概述贫血概述及病因诊断的基本思路贫血概述及病因诊断的基本思路病例讨论病例讨论41Department of Hematology Department of Hematology The First Affiliated

25、 Hospital of WMCThe First Affiliated Hospital of WMC病例1v病历摘要病历摘要v男性，47岁，乏力、面色苍白伴心悸1个月。v患者1个月前无明显原因逐渐感乏力、心悸，上楼是症状加重，同事发现其“面色不好”，无发热。1周前到当地医院检查，诊为“贫血”（具体不详），未予治疗。病后进食正常，不挑食，小便及睡眠均正常，体重无明显下降。近1年来发现大便后滴血或便纸上带血，未引起重视。无胃肠疾病、高血压、肝病和心脏病史。职业为出租车司机。无烟酒嗜好。子女身体健康，无遗传病家族史。Department of Hematology Department of H

26、ematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCv查体：T36，P102次/分，R18次/分，BP137/70mmHg。贫血貌，皮肤未见皮疹和出血点，浅表淋巴结未触及肿大。巩膜无黄染，睑结膜和口唇苍白，舌面正常，甲状腺不大。双肺未闻及干湿性啰音。心界不大，心率102次/分，律齐，心尖部可闻及2/6级收缩期吹风样杂音。腹平软，无压痛，肝脾肋下未触及，移动性浊音（-）。双下肢无水肿。v实验室检查：血常规：Hb 76g/L，RBC 3.01012/L，MCV 72fl，MCH 21pg

27、，MCHC 24%,WBC 7.5109/L，分类正常，PLT 305109/L，Ret 0.015。粪常规：RBC 58/HP，隐血（+）。尿常规(-)。v要求要求:根据以上病历摘要，请将初步诊断及诊断依据（如有两个以上诊断根据以上病历摘要，请将初步诊断及诊断依据（如有两个以上诊断，应分别列出各自诊断依据）、鉴别诊断、进一步检查及治疗原则写在，应分别列出各自诊断依据）、鉴别诊断、进一步检查及治疗原则写在答题纸上。答题纸上。Department of Hematology Department of Hematology The First Affiliated Hospital of WMC

28、The First Affiliated Hospital of WMC一、初步诊断及诊断依据 （一）初步诊断 1缺铁性贫血 2痔 （二）主要诊断依据 1缺铁性贫血： （1）慢性起病，出现乏力、面色苍白、心悸等贫血症状，活动后加重。 （2）有消化道出血病史：便后有滴血或便纸上带血。 （3）贫血貌，睑结膜和口唇苍白，心率快，心尖部2/6级收缩期吹风样杂音。 （4）血常规检查符合小细胞低色素性贫血，粪隐血阳性。 2.痔： （1）中年男性，职业有长期坐位工作史。 （2）临床有大便后滴血及便纸上带血表现，无胃肠疾病和肝病史。 （3）粪镜检有红细胞，隐血阳性。 Department of Hematol

29、ogy Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC二、鉴别诊断 1直、结肠肿瘤 2慢性病性贫血 3铁粒幼细胞贫血 三、进一步检查 1血清铁、铁蛋白、总铁结合力测定。 2骨髓检查和铁染色。 3血清癌胚抗原（CEA）检查。 4肛门指诊。 5必要时行直、结肠内镜检查。 四、治疗原则 1补充铁剂。 2祛除病因，治疗痔。 Department of Hematology Department of Hematology The First Affilia

30、ted Hospital of WMCThe First Affiliated Hospital of WMC2021-11-1346病例2v男性，42岁，干部。v主诉：乏力、面色苍白伴浓茶样尿1月，加重1周。v现病史：1月前因精神郁闷每日饮白酒约1斤后出现乏力、面色苍白并逐渐加重，1周前出现上二楼即感心悸、偶有耳鸣，无视物模糊。偶有阵发性腹部绞痛，无返酸、嗳气，无柏油样便。每日尿色加深，呈浓茶样，无酱油样尿。无发热、畏寒、寒颤、无腰部疼痛。无牙血、鼻衄，无皮肤瘀点瘀斑。无全身骨关节疼痛。v体检：P 110bpm，重度贫血貌，颜面苍黄，巩膜轻度黄染，浅表淋巴结无肿大，胸骨无压痛。双肺呼吸音清，

31、律齐，心尖区/收缩期吹风样杂音；中下腹部压痛，肝脾肋下未及。Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC病例特征v中年男性v起病隐袭，病程1月v发病前有饮酒史，既往体健，无服药史v贫血：缺氧症状、贫血貌、皮肤苍黄、窦速、心尖区杂音v黄染：巩膜黄染、浓茶样尿v腹痛伴中下腹压痛2021-11-1347Department of Hematology Department of Hematology T

32、he First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC诊断第一步v是否贫血？贫血的程度？v除了贫血还有什么表现？皮肤黄染、浓茶样尿腹痛v下一步的实验室检查？48Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC2021-11-1349实验室检查vRBC 2.5 Hb 65g/L HCT 0.19 RDW 0.21vR

33、ET 0.18vWBC 5 109/L N 0.70 L 0.26 M 0.04 BPC450 109/Lv 血常规的特点：MCV=76fL MCH=26pg MCHC=34%Ret#=450109/L校正RET=7.6%RPI=3.4小细胞正色素性贫血增生性贫血红细胞大小不均血小板增多红细胞形态偏小，见少量球形红细胞，嗜碱点彩红细胞易见Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC实验室检查vLD

34、H 350U/LvTB 45mol/L DB 7 mol/L ALT、AST、ALB、TP正常 v尿胆原（+）尿胆红素（-）v黄疸的特点：肝细胞性黄疸阻塞性黄疸溶血性黄疸50知识点：溶血性贫血的诊断从先确定存在溶血开始，按溶血部位进一步判断病因Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC本例的鉴别诊断小细胞性贫血小细胞性贫血v缺铁性贫血v慢性病性贫血v地中海贫血v铁粒幼细胞贫血溶血性贫血溶血性贫血

35、v获得性免疫性非免疫性v先天性膜异常酶异常血红蛋白异常51腹腹痛痛v急性血管内溶血v肠道病变下一步要做的事情？病史和体检溶血试验、铁指数诊断思维：患者存在多个主要临床表现特点时可以从最容易鉴别的特点入手得出初步结论，再用该结论解释其他的临床特点；也可综合多个特点进行鉴别。一个原则就是尽可能用“一元论”来诊断。Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC进一步的实验室检查v铁蛋白 1046 ug/L

36、v证实溶血的其他实验：Coombs (-)、游离血红蛋白、结合珠蛋白正常、尿Rous试验(-)B超：肝脏正常，脾脏增厚52结合小细胞性贫血，提示铁利用障碍Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC补充病史和体检v病史：饮酒的方法和器具v体检53铅线：以门齿、尖齿及第一臼齿的齿龈边缘多见Department of Hematology Department of Hematology The Fi

37、rst Affiliated Hospital of WMCThe First Affiliated Hospital of WMC血铅含量v225g/Lv铅中毒国际血铅标准100g/Lv世界发达国家儿童血铅60g/L为相对安全v儿童铅中毒的分级100199g/L：血红素代谢受影响，神经传导速度下降200499g/L：铁锌钙代谢受影响，出现缺钙、缺锌、血红蛋白合成障碍，可有免疫力低下、学习困难、注意力不集中、智商水平下降或体格生长迟缓等症状500699g/L：可出现性格多变、易激怒、多动症、攻击性行为、运动失调、视力和听力下降、不明原因腹痛、贫血和心律失常等中毒症状；700g/L：可导致肾功能

38、损害、铅性脑病（头痛、惊厥、昏迷等）甚至死亡。54Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMC本例的诊断v亚急性铅中毒溶血性贫血55Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCv男性，男性，32岁，头

39、晕、乏力伴出血倾向半年，加重岁，头晕、乏力伴出血倾向半年，加重1周周患者于半年前无诱因出现头晕、乏力，伴双下肢皮肤出血点，刷牙后牙龈出患者于半年前无诱因出现头晕、乏力，伴双下肢皮肤出血点，刷牙后牙龈出血，无鼻衄、黑便，无发热、咳嗽、咳痰，无关节疼痛，在当地医院予中药血，无鼻衄、黑便，无发热、咳嗽、咳痰，无关节疼痛，在当地医院予中药未见明显好转，未见明显好转，1周来上述症状加重。病来二便正常，进食好，无挑食和偏食周来上述症状加重。病来二便正常，进食好，无挑食和偏食，无酱油色尿，睡眠可，体重无变化。，无酱油色尿，睡眠可，体重无变化。v既往体健，无放射线和毒物接触史，无药敏史。既往体健，无放射线和毒

40、物接触史，无药敏史。v查体：查体：T37，P77次次/分，分，R20次次/分，分，BP110/70mmHg，贫血貌，双下肢散在，贫血貌，双下肢散在出血点，浅表淋巴结未触及，巩膜不黄，舌乳头正常，胸骨无压痛，心肺无出血点，浅表淋巴结未触及，巩膜不黄，舌乳头正常，胸骨无压痛，心肺无异常，肝脾未触及，下肢不肿。异常，肝脾未触及，下肢不肿。v化验：化验：Hb45g/L,RBC1.51012/L,网织红细胞网织红细胞0.1%,WBC3.0109/L, 分类：分类：中性分叶中性分叶30%，淋巴，淋巴65%，单核，单核5%，PLT 35109/L，中性粒细胞碱性磷酸，中性粒细胞碱性磷酸酶酶(NAP)阳性率阳

41、性率80%，积分，积分200分，血清铁蛋白分，血清铁蛋白210g/L，血清铁，血清铁170g /dl, 总总铁结合力铁结合力280g /dl，尿常规，尿常规(-),尿尿Rous试验阴性。试验阴性。问题：问题：v你认为该患者的初步诊断是什么？诊断依据？你认为该患者的初步诊断是什么？诊断依据？v需要同哪些疾病进行鉴别？需要同哪些疾病进行鉴别？v还需要完善哪些检查来明确诊断？还需要完善哪些检查来明确诊断？v该病例的应如何治疗？该病例的应如何治疗？Department of Hematology Department of Hematology The First Affiliated Hospita

42、l of WMCThe First Affiliated Hospital of WMCv1、你认为该患者的初步诊断是什么？诊断依据？v初步诊断 全血细胞减少：慢性再生障碍性贫血可能性大 v诊断依据 病史：半年多贫血症状和出血表现 体征：贫血貌，双下肢出血点，肝脾不大 血象：三系减少，网织红细胞减低，白细胞分类中淋巴细胞比例增高 NAP阳性率和积分均高于正常，血清铁蛋白和血清铁增高，而总铁结合力降低，尿Rous试验阴性 2.5分Department of Hematology Department of Hematology The First Affiliated Hospital of WMCThe First Affiliated Hospital of WMCv2、需要和那些疾病进行鉴别 v骨髓增生异常综合征(MDS) MDS的某些亚型有全血细胞减少，网织红细胞有时不高甚至降低，骨髓也可低增生，这些易与AA混淆。但病态造血现象，原始细胞比例增高，造血祖细胞培养集簇增多集落减少，染色体核