Abstract

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

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