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[患有复发性腹痛和发热的土耳其儿童:家族性地中海热]

[Turkish children with recurrent abdominal pain and fever: familial Mediterranean fever].

作者信息

Hulsmann A R, Hofstra W B, Brinkman J G, van der Wielen M J, Bakker E, Oudesluys-Murphy A M

机构信息

Medisch Centrum Rijnmond-Zuid, locatie Zuider, Postbus 9119, 3007 AC Rotterdam.

出版信息

Ned Tijdschr Geneeskd. 2003 Jun 7;147(23):1097-100.

Abstract

Four children of Turkish origin, three boys aged 12, 8 and 7 years, and a girl aged 5 years, presented with clinical symptoms of familial Mediterranean fever. They had the characteristic episodes of fever combined with abdominal pain, thoracic pain, general malaise or arthralgia. Familial Mediterranean fever is an autosomal recessive genetic disorder restricted to people originating from the Middle East. The causative gene (MEFV) and many missense mutations have been identified. The clinical syndrome is characterised by self-limiting febrile episodes accompanied by inflammation of the serous membranes, resulting in peritonitis, pleuritis or synovitis. In untreated patients systemic amyloidosis may develop, which manifests as renal insufficiency. The diagnosis is based on the characteristic medical history and is confirmed by DNA analysis. Meanwhile, treatment with colchicine can be started. This is effective in 90% of affected patients. Being aware of the prevalence of familial Mediterranean fever in immigrant populations can improve the quality of life and prevent long-term complications.

摘要

四名土耳其裔儿童,三名男孩,年龄分别为12岁、8岁和7岁,一名女孩,年龄为5岁,出现了家族性地中海热的临床症状。他们有发热并伴有腹痛、胸痛、全身不适或关节痛的典型发作。家族性地中海热是一种常染色体隐性遗传病,仅限于中东地区的人群。致病基因(MEFV)和许多错义突变已被确定。临床综合征的特征是自限性发热发作,并伴有浆膜炎症,导致腹膜炎、胸膜炎或滑膜炎。在未经治疗的患者中,可能会发展为系统性淀粉样变性,表现为肾功能不全。诊断基于典型的病史,并通过DNA分析得到证实。同时,可以开始用秋水仙碱进行治疗。这对90%的受影响患者有效。了解移民人群中家族性地中海热的患病率可以改善生活质量并预防长期并发症。

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