系统性红斑狼疮合并消化道损害32例临床分析

目的：探讨系统性红斑狼疮（SLE）合并消化道损害者的临床特点。方法：回顾性分析32例SLE合并消化道损害的患者,收集整理其临床资料,分析其临床特点。结果：食道受累者7例（21．9％）,胃肠道受累者25例（78．1％）其中假性肠梗阻10例（31．2％）,且以肠梗阻为首发症状的2例均误诊为急腹症收住外科,肾脏受累14例（43．8％）。治疗后,24例好转。4例死亡。结论：以消化道症状为首发表现的SLE极易误诊,特别是以吞咽障碍,肠梗阻为首发症状者最易误诊。对有消化道受损表现同时伴有其它脏器受损者应排除有无SLE可能。SLE消化道损害发生率高,对此应提高认识和警惕。     

系统性红斑狼疮并发隐球菌性脑膜炎:1例报告并文献复习

目的探讨系统性红斑狼疮(SLE)合并隐球菌性脑膜炎的诊断及鉴别诊断。方法对1例SLE并发隐球菌性脑膜炎患者的临床及实验室检查特点进行分析,并结合文献复习进行讨论。结果患者出现中枢感染前长期使用泼尼松治疗,曾误诊为狼疮脑病应用激素冲击治疗无效;治疗过程中出现狼疮活动,激素加量后症状缓解。结论 SLE并发隐球菌性脑膜炎患者的临床表现缺乏特异性,感染相关症状与SLE表现部分重叠,腰穿脑脊液墨汁染色找隐球菌和隐球菌抗原乳胶凝集试验是诊断的主要手段。及时诊断和有效抗真菌治疗可改善患者的预后。     

非典型恶性综合征1 例报告暨文献复习

目的:探讨恶性综合征的病因、发病机制、临床表现及治疗。方法:回顾性分析1例非典型恶性综合征患者1例,结合文献进行分析讨论。结果:患者因高龄、全身状况差、长期并联合应用多种抗精神病药物、合并应用多种其他药物而诱发,表现为肌张力增高,心率增快,血压增高,经过停用抗精神病药,给予甲磺酸溴隐亭片、盐酸金刚烷胺片及对症支持治疗,患者病情好转。结论:恶性综合征是抗精神病药物治疗的严重并发症,其临床表现可无发热等典型表现,且可出现各系统症状,可能首诊于多个科室,各科临床医师均应熟悉该病的临床表现,以便及时作出诊断,及时治疗,改善患者预后。     

类风湿性关节炎与系统性红斑狼疮重叠综合征一例报告及文献复习

目的:探讨类风湿关节炎(RA)与系统性红斑狼疮(SLE)重叠综合征(Rhupus综合征)的临床表现及治疗方法,以期提高对本病的认识。方法:对1例类风湿关节炎(RA)与系统性红斑狼疮(SLE)重叠的Rhupus综合征患者的病例资料进行分析。结果:本例患者为中年女性,以RA为首发表现,8年后出现SLE特征性表现。就诊时关节症状较严重,出现多关节变形。本例患者肾脏损害重,糖皮质激素联合甲氨喋呤治疗有效。结论:Rhupus综合征在临床上罕见,加强特异性抗体检查,可减少误诊漏诊,早期正确诊断,积极治疗,对于改善患者预后具有重要意义。     

骨髓增生异常综合征合并非霍奇金淋巴瘤一例病例报道并文献复习

目的:探讨骨髓增生异常综合征合并非霍奇金淋巴瘤的发病机制、诊断及治疗,并判断其预后情况。方法:回顾我院收治的一例骨髓增生异常综合征(MDS)患者同时诊断间变大细胞淋巴瘤(ALCL)患者的临床资料,总结其诊断及治疗经过,对其预后进行评价。结果:该患者诊断间变大细胞淋巴瘤后,经化疗对症治疗病情无显著改善,且患者ALK阳性,考虑预后较差,建议造血干细胞移植。结论:骨髓增生异常综合征合并非霍奇金淋巴瘤的病例在国内外十分罕见,治疗方法目前尚需进一步研究。     

不同手术时机治疗急性肠梗阻患者的效果及对预后影响分析

目的分析不同手术时机治疗急性肠梗阻的临床疗效及对预后的影响。方法将我院收治的89例急性肠梗阻患者采用随机数字表法分为对照组和观察组,对照组44例于发病48h后行手术治疗,观察组45例于发病后48h内进行手术治疗,观察比较两组患者的临床疗效、手术指标情况、炎症因子水平变化及并发症发生情况。结果观察组的治疗总有效率为95.56%高于对照组的79.55%,手术恢复时间、胃肠功能恢复时间及住院时间低于对照组,治疗后IL-6、TNF-α、hs-CRP水平低于对照组,并发症发生率低于对照组,差异均有统计学意义(P0.05)。结论急性肠梗阻的病情进展快,治疗上应依据患者病情发展及症状体征尽早选择治疗方式,48h内行手术治疗的效果显著优于48h后,且安全性高。     

临床手术治疗结肠癌合并肠梗阻的疗效观察

目的:分析临床手术治疗结肠癌合并肠梗阻的疗效。方法:回顾性分析我院收治的72例结肠癌合并肠梗阻患者的临床资料,并观察手术治疗的效果。结果:72例患者行急诊手术24例,并发症发生率37.5%,行择期手术48例,并发症发生率7.14%,急诊手术并发症发生率明显高于择期手术(P0.05);47例左半结肠癌患者并发症发生率23.04%,25例右半结肠癌患者并发症发生率4.0%,左半结肠癌患者并发症发生率明显高于右半结肠癌患者(P0.05)。结论:手术治疗结肠癌合并肠梗阻时应根据具体情况确定合理的手术时机及手术方式,做好并发症预防,以最大限度减少手术创伤。     

系统性红斑狼疮的诊治方向与研究前沿

系统性红斑狼疮(systemic lupus erythematosus, SLE)是一种以多脏器受累及多种自身抗体阳性为主要特点的自身免疫性疾病,多发于育龄期女性.全基因组关联研究、宏基因组研究、表观遗传学研究、单细胞测序、免疫代谢研究及多组学研究在SLE的发病机制研究中发挥着日益重要的作用.自身抗体在SLE的诊断和病情监测中起重要作用.目前临床研究和临床实践中最常应用的是2012年系统性红斑狼疮国际合作组制定的分类标准和2019年欧洲抗风湿病联盟/美国风湿病学会制定的分类标准. SLE的诊治应贯彻早期诊断、早期治疗的原则,以实现尽快控制病情、减少器官损伤累积、改善患者的长期生活质量和提高长期存活率的目标."达标治疗"理念的提出,将进一步提高SLE的整体治疗水平,但由于SLE疾病的高度异质性,应在遵循规范治疗的前提下,体现个体化.除常用的治疗药物如糖皮质激素、抗疟药、免疫抑制剂外,以B细胞为靶向的生物制剂为SLE的治疗提供了新的选择,将成为未来的发展方向.干细胞治疗也有着良好的应用前景.随着SLE患者预后的改善,围妊娠期管理和早发动脉粥样硬化症的防治越来越受到风湿免疫科医师的重视.本文综述了近年来SLE的诊治方向和研究前沿,以期为风湿科医师和研究者提供参考.     

肾脏巨大血管平滑肌脂肪瘤合并结节性硬化1 例报告并文献复习

目的:总结肾脏巨大血管平滑肌脂肪瘤合并结节性硬化的临床及组织病理特点,探讨其诊疗方法及预后情况.方法:回顾性分析1例罕见的肾脏巨大血管平滑肌脂肪瘤合并结节性硬化的临床特征、组织病理学特点以及诊断、治疗方法,同时复习近年来的国内外相关文献.结果:患者于我院行剖腹探查,右肾巨大肿瘤切除术,术后病理示血管平滑肌脂肪瘤.手术后患者恢复良好,症状明显改善,肝肾功能正常.术后3个月复查CT:左肾区与术前比无变化,右肾区未见肿瘤复发.结论:对于巨大肾脏血管平滑肌脂肪瘤合并结节性硬化的患者,手术治疗仍可作为可选择的治疗方法,但其远期预后仍待观察.     

中耳术后并发耳廓软骨膜炎致耳廓畸形——1例病例报告及文献回顾

目的:通过报道1例中耳术后并发耳廓软骨膜炎致耳廓畸形患者的病历资料,以加强临床医师对该疾病的认识与防范。方法:对本例患者的病历资料进行回顾性阐述,结合该患者的临床特点揭示中耳术后并发耳廓软骨膜炎的发生发展过程,并通过文献回顾阐述该疾病的发病原因、病原学特点及治疗方法。结果:耳廓软骨膜炎是耳科手术术后较为棘手但相对少见的并发症,最为常见铜绿假单胞杆菌感染所致。治疗方法视患者病情而定,包括抗菌药物应用、脓肿切开引流、病变软骨切除术。对于合并糖尿病的老年患者中耳术后更易引发耳廓软骨膜炎,且疗程更长、预后更差。结论:中耳术后并发耳廓软骨膜炎临床需警惕,对合并糖尿病的老年患者应多加防范;早诊断,早治疗,避免增加患者痛苦、加重其经济负担,并与患者做好充分沟通,避免医疗纠纷的发生。     

系统性红斑狼疮伴发急腹症的诊治思考 一附18 例临床分析

目的：提高对系统性红疯狼疮（SLE）伴发急腹症临床表现的认识,总结诊断和治疗此类病例的经验。方法：对18例SLE伴发急腹症的病例进行回顾性分析。结果：SLE并发急腹症临床表现多样化,可以表现为消化道出血,肠梗阻。肠穿孔,急性胃肠炎,急性胰腺炎,急性腹膜炎等。治疗后16例病情得到控制,2例死亡。结论：SLE伴发急腹症预示病情危重,对此应提高认识,尽早诊断;应用大剂量肾上腺皮质激素和免疫抑制剂有良好的疗效。     

ANCA相关性小血管炎临床特征及治疗分析

目的：分析抗中性粒细胞胞浆抗体（ANCA）相关性小血管炎（AASV）的临床特点,总结其诊断及治疗方法。方法：43例AASV临床资料,结合文献复习,对其临床表现、治疗、预后进行回顾性分析。结果：发热（76.7%）、关节肌肉疼痛（74.4%）,肾脏受累（88.4%）主要表现血尿（76.7%）、蛋白尿（72.1%）,Sc（r72.1%）、BUN升高（60.5%）;肺脏受累（62.8%）伴有咳嗽咳痰（44.2%）、咯血/痰中带血（30.2%）。影像学主要表现为肺部阴影（55.8%）。实验室检查,ESR（88.4%）、CRP（81.4%）、WBC升高（79.1%）;贫血（67.4%）。主要以环磷酰胺与激素治疗,缓解率86%。结论：AASV是一种多系统损害的自身免疫性疾病,以肾脏、肺脏受累为主,临床缺乏特异性,诊断较困难。综合其临床特点、ANCA等相应特异性靶抗原检测、病理活检等,评估病情的进展、预后,制定合理有效地缓解、维持治疗方案,有重要的临床意义。     

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

The type IV Waardenburg syndrome (WS4), also referred to as Shah-Waardenburg syndrome or Waardenburg-Hirschsprung disease, is characterised by the association of Waardenburg features (WS, depigmentation and deafness) and the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). Mutations in the EDN3, EDNRB, and SOX10 genes have been reported in this syndrome. Recently, a new SOX10 mutation was observed in a girl with a neural crest disorder without evidence of depigmentation, but with severe constipation due to a chronic intestinal pseudo-obstruction and persistence of enteric ganglia. To refine the nosology of WS, we studied patients with typical WS4 (including Hirschsprung disease) or with WS and intestinal pseudo-obstruction. We found three SOX10 mutations, one EDNRB and one EDN3 mutations in patients presenting with the classical form of WS4, and two SOX10 mutations in patients displaying chronic intestinal pseudo-obstruction and WS features. These results show that chronic intestinal pseudo-obstruction may be a manifestation associated with WS, and indicate that aganglionosis is not the only mechanism underlying the intestinal dysfunction of patients with SOX10 mutations.     

Churg-Strauss syndrome: a diagnosis not to be forgotten

Churg-Strauss syndrome (CSS) is a peculiar form of vasculitis with involvement of small- and medium-size arteries, histologically characterized by necrotizing granulomas in vessel walls and in perivascular tissues. The Authors report a case of CSS occurred in a young man being treated with corticosteroids for a diagnosis of asthma. The patient was hospitalized because of fever, diarrhoea and abdominal pain; the first assessment showed leucocytosis and eosinophilia,increase in flogosis indexes and anti-pANCA antibodies positive. A few days later an acute peritonitis with multiple intestinal perforations occurred and a partial resection of small bowel was performed,followed by another resection of an ileal segment because of a new double perforation close to the previous intestinal anastomosis. In the bowel resection pieces necrotizing vasculitis and granulomatous infiltrates involving lymphocytes and eosino- phils were observed. Although the severe intestinal involvement and especially the symptoms necessitating iterative surgery were significant factors of poor prognosis the patient was successfully treated firstly with metylprednisolone only and then with monthly administration of immunosuppressive drugs combined with lower daily dose of steroids. The CSS diagnosis is not to be forgotten althoughits early clinical features can be frequently mistaken for an allergic disease; an early diagnosis can allow to perform the best treatment, to reach the disease remission and to improve the quality of life of the patients.     

甲状腺功能减退症合并慢性肾功能衰竭5例临床分析

目的：提出一些关于早期诊治甲状腺功能减退症合并慢性肾功能不全的建议。方法：回顾性分析我科2000-2006年住院患者中甲状腺功能减退症合并肾功能衰竭病例5例,比较其临床表现和相关检查并分析其诊疗经过。结果：二种疾病不仅在其发生发展上有一定联系,而且在临床表现和相关检查上也有相似之处。二种疾病都可出现浮肿、贫血、乏力、纳差、心包积液、蛋白尿和不同程度的肾功能不全。二者合并出现时临床表现更加复杂多样,增加了临床诊断的难度。结论：在诊治此类疾病时要注意临床表现的一些细节,如心力衰竭时的相对缓脉、与肾功能不全不相适应的贫血、难治性心包积液、不明原因的肾功能损害等,以便早期正确诊治,提高诊疗水平。     

Autoantibodies against a specific nuclear RNP protein in sera of patients with autoimmune rheumatic diseases associated with myositis

Polymyositis is an autoimmune, inflammatory disease affecting human skeletal muscle. In the presence of concomitant vasculitis in the skin, the term dermatomyositis is used. In contrast, systemic lupus erythematosus (SLE) is a multisystem disease in which involvement of the skin, kidneys, joints, brain, and other organs may be found. The clinical manifestations vary according to the organ/system involved. It is clinical and therapeutic importance to define which organ/system is involved during the course of the disease. We approached this problem by studying the specificity of autoantibodies that are generated in patients with SLE and polymyositis/dermatomyositis. Among such antibodies are those directed against nuclear components including a variety of ribonucleoprotein (RNP) complexes. We have utilized mammalian nuclear preparations enriched with RNP particles as the antigenic source for immunoblotting studies to identify specific antigenic polypeptides. In the study reported here, sera from five groups of patients were examined: 10 patients with dermatomyositis/polymyositis; six patients with SLE and myositis; 12 lupus patients with cerebral and/or renal disease; eight patients with SLE but no myositis, renal, or cerebral disease; and 5) 11 patients with muscle weakness or muscle disease not due to myositis. In the first two groups of patients with myositis, antibodies against a nuclear RNP protein of 56 KD was identified in 12 of 16 sera. In contrast, such antibodies were found in the serum of only two of 20 patients with SLE but without muscle involvement (groups 3 and 4), and were not found at all in patients with other muscle diseases. This study has identified a new marker, antibodies against a nuclear RNP protein of 56 KD for detecting muscle involvement among the autoimmune rheumatic diseases.     

106例肺部真菌感染的临床分析

目的研究肺部真菌感染的易患因素、临床特征、治疗结果和预后。方法应用回顾性的调查方法对106例肺部真菌感染患者进行分析。结果92.5%(98/106)的病例患有慢性阻塞性肺疾病(COPD)、系统性红斑狼疮(SLE)、白血病和慢性肾病等基础疾病,原发性肺部真菌感染少见。肺部真菌感染的临床表现无明显特异性,早期诊断仍比较困难,X线表现以支气管肺炎多见(占59.4%)。病原菌主要以酵母菌属为主(79.2%)。肺部真菌感染的预后较差,病死率较高,基础病为慢性肾病、COPD和血液系统疾病者死亡风险较大。结论肺部真菌感染是多种疾病继发感染的重要原因,其临床表现特异性少,病死率高,发病呈上升趋势,应引起临床高度重视。