Sato Tomonobu, Takezaki Shunichiro, Goto Takeru, Ishikawa Shinichi, Oura Kazumi, Takahata Asuka, Shiraishi Haruki, Maruo Yuji, Sato Norio, Suganuma Takashi, Mikawa Makoto
Department of Pediatrics, Kitami Red Cross Hospital, Kitami, Japan.
Department of Pediatrics, Hokkaido University Hospital, Hokkaido, Japan.
Case Rep Pediatr. 2021 Mar 2;2021:6650226. doi: 10.1155/2021/6650226. eCollection 2021.
Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever () gene abnormality. FMF can be categorized as typical or atypical, based on clinical findings and genetic screening. Atypical FMF has a wide variation of clinical findings and disease-causing mutations of . Therefore, it is sometimes difficult to diagnose an unknown fever as FMF. To date, a large number of various typical and atypical FMF cases have been reported in Japan. Here, we describe a Japanese boy with heterozygous p.Ser503Cys exon 5 variant who developed periodic fever. He was treated with colchicine; a complete eradication of his fever and various accompanying symptoms have been subsequently achieved for more than a year. Given that there have been a few reports about patients with this variant, little is known about the genetic and phenotypic role of heterozygous p.Ser503Cys exon 5 variant. It is therefore imperative to consider atypical FMF as a differential diagnosis when a periodic fever is encountered. Furthermore, we suggest that it is worthwhile to integrate gene analysis with the potential effects of colchicine treatment in patients with periodic fever.
周期性发热综合征是一组异质性疾病。家族性地中海热（FMF）是由地中海热（）基因异常引起的遗传性周期性发热疾病之一。根据临床表现和基因筛查，FMF可分为典型和非典型。非典型FMF的临床表现和致病突变具有很大差异。因此，有时很难将不明原因的发热诊断为FMF。迄今为止，日本已报道了大量各种典型和非典型FMF病例。在此，我们描述了一名患有杂合子p.Ser503Cys外显子5变异的日本男孩，他出现了周期性发热。他接受了秋水仙碱治疗；随后一年多来，他的发热及各种伴随症状完全消失。鉴于关于这种变异患者的报道较少，对于杂合子p.Ser503Cys外显子5变异的遗传和表型作用知之甚少。因此，当遇到周期性发热时，必须将非典型FMF作为鉴别诊断考虑。此外，我们建议将基因分析与秋水仙碱治疗对周期性发热患者的潜在影响相结合是值得的。
