协和医学杂志

2017, v.8(Z2) 316-320

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成人起病的家族性地中海热一例
A Case of an Adult-Onset Familial Mediterranean Fever

刘鑫;李玥;张智旸;王莉瑛;钱家鸣;
LIU Xin;LI Yue;ZHANG Zhi-yang;WANG Li-ying;QIAN Jia-ming;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

摘要(Abstract):

家族性地中海热(familial Mediterranean fever,FMF)为一种遗传性自身炎症性疾病,临床表现以周期性发热、腹痛、关节炎、浆膜炎等为特点,发病人群多集中于地中海地区,起病年龄多在20岁以前。本文报道一例成年后起病的FMF中国病例,分析其临床表现、实验室检查结果、基因突变情况及治疗结局。
Familial Mediterranean fever( FMF) is a kind of genetic autoinflammatory diseases,characterized with periodic fever,abdominal pain,arthritis and serositis. FMF is commonly seen in Mediterranean area and the onset of disease is mostly before 20 years old. Here we report a Chinese FMF patient who presented with typical syndromes after adulthood. The clinical manifestations,laboratory results,genetic mutations and therapeutic responses are presented and discussed in detail.

关键词(KeyWords): 家族性地中海热;自身炎症性疾病;周期性发热;炎症性肠病
familial Mediterranean fever;inflammatory disease;periodic fever;inflammatory bowel disease

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作者(Author): 刘鑫;李玥;张智旸;王莉瑛;钱家鸣;
LIU Xin;LI Yue;ZHANG Zhi-yang;WANG Li-ying;QIAN Jia-ming;Department of Gastroenterology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences &Peking Union Medical College;

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