ID | 63036 |
フルテキストURL | |
著者 |
Matsuo, Toshihiko
Graduate School of Interdisciplinary Science and Engineering in Health Systems, Okayama University
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Yashiro, Masato
Department of Ophthalmology, Okayama University Hospital
Kaken ID
Yamasaki, Osamu
Melanoma Center, Department of Dermatology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
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Tanaka, Takehiro
Department of Pathology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
ORCID
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Manki, Akira
Department of Pediatrics, Okayama City Hospital
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抄録 | The aim of this study is to describe bilateral optic disc swelling in three consecutive patients with Blau syndrome or cryopyrin-associated periodic syndrome at a single institution. Case 1 was a 30-year-old woman receiving 25 mg etanercept twice weekly who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 5 months old and genetically diagnosed with Blau syndrome with CARD15/NOD2 mutation (N670K) at 13 years old. At 10 years old, she began to have uveitis with optic disc swelling in both eyes, resulting in macular degeneration and optic disc atrophy at 17 years old only when etanercept was introduced. Case 2 was a 21-year-old man receiving adalimumab every 2 weeks who had been diagnosed as early-onset sarcoidosis by biopsy of skin rashes at 1.5 years old and genetically diagnosed as Blau syndrome with CARD15/NOD2 mutation (C495Y) at 5 years old. At 8 years old, around the time of adalimumab introduction, he began to show bilateral optic disc swelling which continued until the age of 16 years when the dose of adalimumab was increased. Case 3 was a 20-year-old woman receiving canakinumab every 8 weeks for systemic symptoms such as fever, headache, vomiting, and abdominal pain and later for sensorineural hearing disturbance on both sides. She had been diagnosed genetically with cryopyrin-associated periodic syndrome with NLRP3 mutation (Y859C) at 7 years old. At 5 years old, she was found to have bilateral optic disc swelling, which continued until the age of 10 years when she began receiving canakinumab (IL-1β inhibitor). Bilateral optic disc swelling might be tentatively designated as a plausible common ocular feature, if it occurred, in autoinflammatory diseases to pay more attention to ophthalmic complications in rare diseases.
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キーワード | autoinflammatory diseases
Blau syndrome
Muckle-Wells syndrome
CINCA/NOMID syndrome
cryopyrin-associated periodic syndromes
optic disc swelling (optic papillitis)
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発行日 | 2021-12-19
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出版物タイトル |
Life
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巻 | 11巻
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号 | 12号
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出版者 | MDPI AG
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開始ページ | 1433
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ISSN | 2075-1729
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © 2021 by the authors.
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論文のバージョン | publisher
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DOI | |
関連URL | isVersionOf https://doi.org/10.3390/life11121433
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ライセンス | https://creativecommons.org/licenses/by/4.0/
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Citation | Matsuo, T.; Yashiro, M.; Yamasaki, O.; Tanaka, T.; Manki, A. Bilateral Optic Disc Swelling as a Plausible Common Ocular Sign of Autoinflammatory Diseases: Report of Three Patients with Blau Syndrome or Cryopyrin-Associated Periodic Syndrome. Life 2021, 11, 1433. https://doi.org/10.3390/life11121433
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