家族性地中海热的研究

doi:10.3877/cma.j.issn.1673-5250.2019.06.002

中华妇幼临床医学杂志(电子版) ›› 2019, Vol. 15 ›› Issue (06) : 612 -617. doi: 10.3877/cma.j.issn.1673-5250.2019.06.002

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家族性地中海热的研究

李雪¹, 舒敏¹^,^†(

), 邓建军¹, 李银月¹

^1. 四川大学华西第二医院儿科、出生缺陷与相关妇儿疾病教育部重点实验室，成都　610041

收稿日期:2019-06-02 修回日期:2019-10-17 出版日期:2019-12-01
通信作者: 舒敏

Current research status of familial Mediterranean fever

Xue Li¹, Min Shu¹^,^†(), Jianjun Deng¹, Yinyue Li¹

^1. Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China

Received:2019-06-02 Revised:2019-10-17 Published:2019-12-01
Corresponding author: Min Shu
About author:
Corresponding author: Shu Min, Email: suemin2005@163.com
Supported by:
Scientific Research Project of Science and Technology Department of Sichuan Province(2017JY275)

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家族性地中海热(FMF)，是一种与MEFV基因突变有关的常染色体隐性遗传性自身炎症性疾病(AID)。FMF患者主要表现为反复发作的自限性发热和多种浆膜炎，包括腹膜炎、胸膜炎、心包炎及关节炎等。FMF主要见于阿拉伯人、土耳其人、犹太人和伊朗人等地中海血统的4大种族人群。近年文献报道，在其他种族人群中亦发现FMF患者。在中国，也陆续在成年人及儿童中发现FMF患者。引起发热症状的疾病众多，对于反复周期性发热患儿，除考虑内分泌疾病、免疫性疾病外，还应警惕FMF可能。目前对于FMF的有效治疗药物是秋水仙碱。关于FMF诊断标准与治疗的研究，大多针对成年FMF患者。笔者拟总结儿童FMF的诊断标准及治疗药物剂量的研究现状，并就FMF的发病机制、临床表现、分型、一般实验室检查，以及基因突变类型及其检测、诊断标准、治疗结果等最新研究进展进行阐述，旨在为儿科医师提供该病的诊断及治疗依据。

关键词: 家族性地中海热, 基因，隐性, 染色体障碍, 常染色体隐性遗传疾病, 遗传性自身炎症性疾病, 基因测定, 儿童

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder (AID) associated with mutations in MEVF gene. FMF patients are characterized by recurrent self-limited fever and multiple hydrohymenitis, such as peritonitis, pleurisy, pericarditis, arthritis, etc.. FMF is common in the Arab, Turkish, Jewish and Iranian Mediterranean races, but it has been gradually found in other races in recent years. For example, in the past few years, FMF patients have been found in adults and children in Chinese. There are many diseases causing fever. For children with recurrent periodic fever, besides considering endocrine diseases and immune diseases, FMF should also be considered. The current effective drug for FMF is colchicine. At present, most of the studies on FMF are aimed at adult patients, including diagnostic criteria, treatment and so on. This article will summarize diagnostic criteria and doses of therapeutic drugs for children with FMF, and elaborate the pathogenesis, clinical manifestation, classification and general laboratory examinations of FMF, the types of gene mutation and its detection, diagnostic criteria and treatment results in the latest research progresses, aiming to provide a basis for early diagnosis and early treatment of this disease.

Key words: Familial Mediterranean fever, Genes, recessive, Chromosome disorders, Autosomal recessive genetic disease, Hereditary autoinflammatory diseases, Genetic testing, Child

表1 儿童家族性地中海热的新诊断标准中的主要临床症状及其体征

临床症状	临床体征
发热	持续时间为6～72 h，体温>38 ℃，发作次数≥3次
腹痛	持续时间为6～72 h，发作次数≥3次
胸痛	持续时间为6～72 h，发作次数≥3次
关节炎	持续时间为6～72 h，发作次数≥3次，单关节炎
FMF家族史	＋

表1 儿童家族性地中海热的新诊断标准中的主要临床症状及其体征

临床症状	临床体征
发热	持续时间为6～72 h，体温>38 ℃，发作次数≥3次
腹痛	持续时间为6～72 h，发作次数≥3次
胸痛	持续时间为6～72 h，发作次数≥3次
关节炎	持续时间为6～72 h，发作次数≥3次，单关节炎
FMF家族史	＋

表2 不同年龄家族性地中海热患者接受秋水仙碱治疗的剂量(±s)

年龄组(岁)	秋水仙碱剂量
年龄组(岁)	体重[mg/(kg·d)]	体表面积[mg/(m²·d)]
<5	0.05±0.02	1.46±0.41
≥5～10	0.03±0.01	1.19±0.30
≥10～15	0.027±0.01	0.84±0.20
≥15～20	0.02±0.00	0.02±0.00

表2 不同年龄家族性地中海热患者接受秋水仙碱治疗的剂量(±s)

年龄组(岁)	秋水仙碱剂量
年龄组(岁)	体重[mg/(kg·d)]	体表面积[mg/(m²·d)]
<5	0.05±0.02	1.46±0.41
≥5～10	0.03±0.01	1.19±0.30
≥10～15	0.027±0.01	0.84±0.20
≥15～20	0.02±0.00	0.02±0.00

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