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[家族性地中海热(家族性阵发性多浆膜炎)]

[Familial Mediterranean fever (familial paraoxysmal polyserositis)].

作者信息

Dlugosch J, Altrock G, Klepzig H

机构信息

Medizinische Klinik I, Klinikum Offenbach/Main, Offenbach.

出版信息

Dtsch Med Wochenschr. 2003 Jul 4;128(27):1479-82. doi: 10.1055/s-2003-40286.

DOI:10.1055/s-2003-40286
PMID:12840771
Abstract

HISTORY AND ADMISSION FINDINGS

A 48-year-old Iranian man had suffered since the age of 15 from repetitive periods of fever and abdominal pain, which had led to appendicectomy and cholecystectomy. He was admitted because of pain in the left chest and fever. He showed himself to be a personality fixed on his chronic pain. He reported pressure in the left chest and slight tenderness in the abdomen. His body temperature was about 38.5 degrees C axillary.

INVESTIGATIONS

All routine laboratory tests were normal except CRP (183 mg/l), microalbuminuria (20 mg/l) and amyloid A-protein in serum (865 mg/l). In an X-ray of the chest a small amount of fluid was seen on both sides. A gene test confirmed mutation of the Marenostrin/Pyrin gene at chromosome 16.

DIAGNOSIS, TREATMENT AND CLINICAL COURSE: The diagnosis of familial Mediterranean fever was based on the typical clinical history, the ethnographical background and the result of the gene test. We initiated therapy with colchicine (3 x 0.5 mg/d) that resulted in rapid improvement of the symptoms and the patient has had no further pain.

CONCLUSION

Mediterranean fever should be considered in cases of repeated periods of abdominal or chest pain and fever in patients with typical ethnographical background. An early diagnosis and therapy may shorten the course of the disease and prevent unnecessary surgery, prolonged periods of hospitalization, a personality structure fixed on chronic pain, and the development of amyloidosis.

摘要

病史及入院检查结果

一名48岁的伊朗男子自15岁起就反复出现发热和腹痛,为此接受了阑尾切除术和胆囊切除术。他因左侧胸痛和发热入院。他表现出对自己慢性疼痛的执着个性。他诉说左侧胸部有压迫感,腹部有轻微压痛。他的腋下体温约为38.5摄氏度。

检查

除C反应蛋白(183毫克/升)、微量白蛋白尿(20毫克/升)和血清淀粉样蛋白A(865毫克/升)外,所有常规实验室检查均正常。胸部X光检查显示双侧有少量胸腔积液。基因检测证实16号染色体上的Marenostrin/Pyrin基因发生突变。

诊断、治疗及临床病程:根据典型的临床病史、人种学背景及基因检测结果,诊断为家族性地中海热。我们开始用秋水仙碱(每日3次,每次0.5毫克)治疗,症状迅速改善,患者此后未再疼痛。

结论

对于具有典型人种学背景、反复出现腹痛或胸痛及发热的患者,应考虑地中海热。早期诊断和治疗可缩短病程,避免不必要的手术、延长住院时间、形成对慢性疼痛的执着个性以及预防淀粉样变性的发生。

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