Current research status of familial Mediterranean fever

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

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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