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Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant
- Source :
- Case Reports in Pediatrics, Vol 2021 (2021), Case Reports in Pediatrics
- Publication Year :
- 2021
- Publisher :
- Hindawi Limited, 2021.
-
Abstract
- Periodic fever syndromes are heterogeneous diseases. Familial Mediterranean fever (FMF) is one of the hereditary periodic fever diseases caused by a Mediterranean fever (MEFV) 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 MEFV. 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 MEFV 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 MEFV 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 MEFV gene analysis with the potential effects of colchicine treatment in patients with periodic fever.
- Subjects :
- 030203 arthritis & rheumatology
business.industry
Familial Mediterranean fever
Case Report
Gene Abnormality
General Medicine
MEFV
medicine.disease
Pediatrics
RJ1-570
03 medical and health sciences
chemistry.chemical_compound
Colchicine treatment
Exon
0302 clinical medicine
chemistry
030220 oncology & carcinogenesis
Immunology
Colchicine
Medicine
In patient
Differential diagnosis
business
Subjects
Details
- ISSN :
- 20906811 and 20906803
- Volume :
- 2021
- Database :
- OpenAIRE
- Journal :
- Case Reports in Pediatrics
- Accession number :
- edsair.doi.dedup.....a02cdd3140c1d126646ce383cdb2bc7c