《风湿病与发热待查》由会员分享，可在线阅读，更多相关《风湿病与发热待查（89页珍藏版）》请在金锄头文库上搜索。
1、风湿病与发热待查,发热待查,指发热持续23周以上，体温超过38.5 ，经完整的病史询问、体格检查以及常规的实验室检查暂时不能明确诊断者。Petersdorf RG, beesson PB. Fever of unexplained origin: report on 100 cases. Medicine 1961;40:130.,发热待查风湿病在治疗过程中的FUO问题,infection (36% )malignancy (19%)collagen vascular diseases (19%), miscellaneous other causes (19%), such as drug
2、fever.No cause was determined ( 7%),Petersdorf RG, beesson PB.,2003年 FUO Arch Intern Med 2003;163: 545,2013年FUO review NEJM,尽管CT、MRI、PCR、免疫/血清学的诊断方法的极大的提高：但临床上不能明确原因的FUO 在60年间没有下降反而上升：1961年：7% . （Medicine 1961;40:130.）2003年： 1/3（Arch Intern Med 2003;163: 1033）2007年：51%（Medicine 2007;86:26-38),FUO 的诊
3、断思路,a comprehensive history. Particular attention should be given to occupation, the dwelling environment, recent travel, exposure to pets and other animals, and recent contact with persons exhibit-ing similar symptoms. Physical examination should be paid to the skin, mucous membranes, and lymphatic
4、 system and abnormalities as a cardiac murmur, abdominal masses, or organomegaly.The physicians choice of imaging should be guided by findings from a thorough history and physical examination.,新的诊断技术：1：PET-CT2：基因诊断技术,基因诊断技术,在非感染性炎症性疾病中，除了风湿性疾病外，近年来 发现其他一些周期性发热伴腹痛和关节痛症状的综合征，其 中大部分具有遗传性，它们的共同特点是：复发性和周
5、期 性发热；发热持续时间大多相同，少则28 d，多则24 周；多系统炎症(滑膜、浆膜及眼、皮肤等炎症表现)；自限性；急性期反应物显著升高，但始终查不到感 染性病原体，亦无法查到任何自身免疫疾病的特 征；在无症状间歇期患者可完全正常。,遗传性周期性发热综合征,A MYSTERIOUS CASE,Renji HospitalRheumatology Department2012,History of Present Illness- at 7 year old,At 7 years old (1999) she complained about headache for the first tim
6、e. At that moment PE revealed diffuse rush (allergic?) and submandibular lymph nodes.She received for the first rime CST treatment (10mg bid) with a rapid response (no headache, no rush except the face),History of Present Illness 9 year old,Between 7 year old and 9 years old we dont have clear infor
7、mations about her treatment or clinical statusAt 9 years old (Jun 2001) was admitted for the first time at Renji Hospital with fever and reappearance of rush and headacheLab exam: ESR ( 46mm/h) CRP (40 mg/dl) leucocitosis (WBC= 14.6 X 10 9/L) with normal differential count liver enzyme (SGOT) 113UI/
8、L CH 50 (116 U/ML) ANA, ENA negative Ig E- normalAttempted Diagnostic: Undifferentiated Rheumatic DiseaseRecommended treatment: Dexamethasone pills 0/75 mg bid, then PDN 10mg/day every 2 days HCQ 1tb/day anti-allergic,Present Illness (Jan 2012)- at 20 year old,At 20 year old she was admitted for the
9、 first time in Rheumatology department Renji Hopital with the same ongoing complaints: headache (nonspecific site, sometimes frontal or parietal, appearing at midnight, lasting variable period of time 1 hour to 1 day) bilateral decrease loss of hearing difuse rushright ankle painmialgia on trapez mu
10、scle sleeplessnessPE slim constitutional young girl, obviously in distress, most probably related with her continuous headachedifficult to obtain informations due to hearing impairmentafebrile (but sweating a lot), normal, regular pulse, normal heart and respiratory rate, bordeline HTA (140/73 mmHg)
11、skin: facial acne, diffuse mild elevated rush (face, thorax, abdomen, limbs), sometimes itching bilateral axilar lymph nodes (tenderless, mobile, small)Right ankle : painful, but no sweelenrest of the PE exam unremarkable,Patient,Norm-1,The patient is a heterozygote(A/G) that may explain the clinica
12、l manifestations of late onset and lower inflammation activation condition.,Our case,Nucleotide Mutation：G907AAmino Acid Change：D303N,Numbers represent the base location in the cDNA sequences, where base 1 is the first base of the second ATG codon.,Sequencing results of exon3 of the CIAS1,CAPS (Cryo
13、pyrin Associated Periodic Syndrom)Final Diagnosis,CAPS are members of a growing family of autoinflamatory diseases, which are originally reffered to as Hereditary Periodic Fever Syndromes.CAPS manifest with rashes, fevers, joint pain, and other inflammatory symptoms. These symptoms often occur after
14、 exposure to cold or damp air or a drop in temperature, but symptoms may also show up for no clear reasonCAPS diseases are associated with mutations or misspellings in the Cold-Induced Autoinflammatory Syndrome 1 (CIAS1) gene, also known as the NLRP3, NALP3 or PYPAF1 gene. CIAS1 encodes cryopyrin, w
15、hich belongs to an emerging family of danger sensors, called NLRs (NOD-like receptors).,常见原因一、感染性疾病 结核-注意肺外结核感染性心内膜炎；少见部位的感染真菌感染病毒，最常见的是巨细胞病毒, 25%患者发热超过3 周。其次是EB 病毒。近几年来HIV 感染发病率明显升高。寄生虫感染宠物二、血液病溶血性贫血；恶性组织细胞增生症；反应性噬血细胞综合征；淋巴瘤；急性非淋巴细胞白血病；嗜酸粒细胞增多症；骨髓坏死,三、恶性肿瘤四、结缔组织病五、内分泌疾病甲亢；下丘脑综合征；嗜铬细胞瘤六、中枢性发热肿瘤转移、七、功能性低热,发热待查风湿病在治疗过程中的FUO问题,
