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Jingdong book

风湿免疫科疑难病诊断(第2集)

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风湿免疫科疑难病诊断(第2集)

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在日常医疗工作中往往会遇到许多诊断不清或治疗效果不理想的疑难病人,他们给经治医师许多日思夜想的担忧和焦虑。其实,疑难病例就是某种临床疾病的“亚型”或“变异型”,等你一旦认识它以后就会发现这样的疾病并不少见,也不疑难,以后就会很顺利地解决它们,你的临床水平也就会提升。
《风湿免疫科疑难病诊断(第2集)》汇集了北京协和医院风湿免疫科近年来诊治的部分疑难或病情较复杂的病例,在经治医师的观察和分析、全科集体查房讨论后得到了正确诊断方向,还给许多患者一个良好的预后。
Catalogue

第1例 多关节肿痛-活动受限
第2例 关节痛、发热-肌无力-持续发热-腹胀
第3例 间断发热-关节肿痛-皮疹
第4例 雷诺现象-失语、肢体无力
第5例 鼻出血-腰痛-血便、口眼干、皮疹-下肢酸胀-腹痛
第6例 皮疹-关节肿痛-胸闷、主动脉壁增厚、主动脉瓣关闭不全
第7例 发热、视物不清-头痛、关节肿痛
第8例 口眼干、发热、黄疸
第9例 咳嗽、发热、皮下结节、气道病变-血管炎
第10例 发热-腹痛-突发左上肢无力-肌酐升高
第1l例 注射干扰素后四肢皮肤肿胀-活动后气短
第12例 头痛-抽搐-少尿-意识障碍
第13例 反复月经增多-双下肢水肿
第14例 间断胸闷气短-下肢痛伴气短-抗磷脂综合征
第15例 发热、活动后气短-颈部不适
第16例 关节痛、肿大-腰背痛-进行性假性类风湿发育不良症
第17例 发热-咳嗽-多关节肿痛-复发性多软骨炎
第18例 多关节肿痛-蛋白尿-失明-系统性红斑狼疮
第19例 全身多发皮疹-泡沫尿-IgA肾病
第20例 活动后气短-发热-双下肢肌痛-ANCA相关性血管炎
第21例 反复口腔,外阴溃痛-腹痛-贝赫切特综合征
第22例 骨发育不良-末端指骨溶解-多关节炎
第23例 发热伴肌肉关节疼痛-凝固酶阴性葡萄球菌败血症
第24例 淋巴结增大-进行性下肢无力、麻木-干燥综合征
第25例 反复发热、血尿、蛋白尿-头痛-系统性红斑狼疮
第26例 皮肤淤斑-间断关节肿痛-胸闷-SLE、LAM
第27例 关节肿痛-全身水肿-发热-肝脾淋巴结增大
第28例 皮疹-多发皮下结节-肺内结节-复视
第29例 发热-多发皮下结节-双肺结节
第30例 耳痛、听力下降-鼻塞鼻出血-血肌酐升高-便血
第31例 高血压-弥漫性肺泡出血、蛋白尿
第32例 鼻塞、脓涕-嗅觉减退
第33例 皮疹-发热-腋下肿物
第34例 发热-肌肉、关节痛-颈部肿物
第35例 下肢水肿多年
第36例 高血压、蛋白尿、下肢麻木无力
附录 中英文词汇对照
Book Abstract

治疗上,激素对于ITP的有效率约90%,但大部分患者复发,长期激素有效率仅30%左右。激素无效可考虑脾切除,有效率约50%,对切脾无效或不接受的患者可以选用免疫抑制剂,包括环磷酰胺(CTX)、环孢素A(CsA)等或进行造血干细胞移植。此患者尽管激素治疗曾有效,但目前存在股骨头坏死,不宜应用。对于难治ITP如果为免疫病继发,则CTX效果较好。利妥昔单抗对难治性ITP效果较好,有效率为50%-60%,AIHA治疗效果稍差,Evans综合征治疗有效率更低,加之价格昂贵,不作为首选。需要先明确诊断再讨论治疗。
肾内科和消化科医师则以低蛋白血症作为切入点。低蛋白血症原因有几方面:摄入不足、分解过多、合成障碍和丢失增加。其中摄入不足和分解过多在此患者基本上不存在。另一方面为合成障碍,该患者多次查肝功能正常,既往无肝病病史,亦不能解释。丢失过多因素需要重点考虑。患者反复查24h尿蛋白仅0.3g。追问病史,患者于2008年9月即间断出现双下肢和颜面水肿,在当地医院按肾病治疗,但当时肾功能正常,疗效不佳,所以低蛋白血症不是肾脏丢失蛋白所致。需要除外其他途径的丢失:①月经量多,出现严重贫血,补体、免疫球蛋白、总蛋白均低。考虑月经量多时是否伴随失血丢蛋白,但目前不明确;②胃肠道丢失蛋白:即失蛋白肠病,其临床表现不具特异性,可表现为双下肢、颜面、全身水肿等。失蛋白肠病往往伴随消化系统症状,包括腹胀、腹痛、腹泻、营养不良等。患者虽无明显消化道症状,也不能排除肠道丢失蛋白可能。我院消化科总结60例失蛋白肠病患者,其中10例完全没有消化道症状,有9例有腹部不适和轻度腹泻。失蛋白肠病常见的原发于消化道的病变是淋巴管扩张症,患者胃镜检查达十二指肠降部,未发现肠壁水肿和淋巴管扩张的特征性表现。还有可能肠系膜淋巴病变所致肠道淋巴回流受阻,小肠CT三维重建提示胃小弯侧多发小淋巴结,但不足以造成淋巴管阻塞。其他还需要除外如:①巨大肥厚性胃病:胃镜特征表现为胃黏膜肥厚,但此患者无此表现;②肿瘤:目前无证据;③炎症性肠病:目前亦无证据。
另外应考虑该有无系统性疾病导致失蛋白肠病发生,其中以SLE最常见。该患者小肠CT三维重建提示第一组至第三组小肠黏膜增厚;同时也有免疫指标异常,因此SLE不能除外。2006年我院风湿科郑文洁医师曾报道19例SLE合并失蛋白肠病,其中9例无消化道症状。人白蛋白核素示踪显像是诊断失蛋白肠病的金标准,但我院目前无法开展。小肠CT三维重建虽然提示局限性小肠壁增厚,分界清楚,但由于CT不能看到黏膜像,建议行小肠镜或胶囊内镜或口服小肠造影,必要时也可行结肠镜检查。患者不仅白蛋白低,总蛋白也低,因此应考虑肠道丢失蛋白所致。
此患者毕竟有少量尿蛋白,提示可能存在肾损害,但尿常规红细胞为阴性,肾功能正常,血压正常,故目前肾损害程度较轻。因为目前原发病诊断不清,不除外系统性疾病,例如SLE,在以后诊治过程中可监测尿蛋白,进一步除外系统性疾病导致的肾损害。
……

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