Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant
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...
Saved in:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2021/6650226 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849398592405504000 |
|---|---|
| author | Tomonobu Sato Shunichiro Takezaki Takeru Goto Shinichi Ishikawa Kazumi Oura Asuka Takahata Haruki Shiraishi Yuji Maruo Norio Sato Takashi Suganuma Makoto Mikawa |
| author_facet | Tomonobu Sato Shunichiro Takezaki Takeru Goto Shinichi Ishikawa Kazumi Oura Asuka Takahata Haruki Shiraishi Yuji Maruo Norio Sato Takashi Suganuma Makoto Mikawa |
| author_sort | Tomonobu Sato |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a0fe13d256654ec38a86e6d8b5ebe8f2 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2021-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-a0fe13d256654ec38a86e6d8b5ebe8f22025-08-20T03:38:34ZengWileyCase Reports in Pediatrics2090-68032090-68112021-01-01202110.1155/2021/66502266650226Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 VariantTomonobu Sato0Shunichiro Takezaki1Takeru Goto2Shinichi Ishikawa3Kazumi Oura4Asuka Takahata5Haruki Shiraishi6Yuji Maruo7Norio Sato8Takashi Suganuma9Makoto Mikawa10Department of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Hokkaido University Hospital, Hokkaido, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanDepartment of Pediatrics, Kitami Red Cross Hospital, Kitami, JapanPeriodic 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.http://dx.doi.org/10.1155/2021/6650226 |
| spellingShingle | Tomonobu Sato Shunichiro Takezaki Takeru Goto Shinichi Ishikawa Kazumi Oura Asuka Takahata Haruki Shiraishi Yuji Maruo Norio Sato Takashi Suganuma Makoto Mikawa Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant Case Reports in Pediatrics |
| title | Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant |
| title_full | Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant |
| title_fullStr | Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant |
| title_full_unstemmed | Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant |
| title_short | Atypical Familial Mediterranean Fever in a Japanese Boy with Heterozygous MEFV p.Ser503Cys Exon 5 Variant |
| title_sort | atypical familial mediterranean fever in a japanese boy with heterozygous mefv p ser503cys exon 5 variant |
| url | http://dx.doi.org/10.1155/2021/6650226 |
| work_keys_str_mv | AT tomonobusato atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT shunichirotakezaki atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT takerugoto atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT shinichiishikawa atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT kazumioura atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT asukatakahata atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT harukishiraishi atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT yujimaruo atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT noriosato atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT takashisuganuma atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant AT makotomikawa atypicalfamilialmediterraneanfeverinajapaneseboywithheterozygousmefvpser503cysexon5variant |