Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study

被引：14

作者：

Hirano M. ^{[1
]}

Seguchi J. ^{[2
]}

Yamamura M. ^{[3
]}

Narita A. ^{[2
]}

Okanobu H. ^{[4
]}

Nishikomori R. ^{[5
]}

Heike T. ^{[5
]}

Hosokawa M. ^{[1
]}

Morizane Y. ^{[1
]}

Shiraga F. ^{[1
]}

机构：

[1] Department of Ophthalmology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama

[2] Department of Ophthalmology, Okayama Saiseikai General Hospital, Okayama

[3] Center for Rheumatology, Okayama Saiseikai General Hospital, Okayama

[4] Department of Ophthalmology, Kurashiki Medical Center, Kurashiki

[5] Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto

来源：

Journal of Ophthalmic Inflammation and Infection | / 5卷 / 1期

关键词：

Canakinumab; Chronic infantile neurologic; Cryopyrin-associated periodic syndrome; Cutaneous and articular/neonatal-onset multisystem inflammatory disease syndrome; Stromal keratitis; Uveitis;

D O I：

10.1186/s12348-015-0065-9

中图分类号：

学科分类号：

摘要：

Background: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare autoinflammatory diseases, and of these, chronic infantile neurologic, cutaneous, and articular/neonatal-onset multisystem inflammatory disease (CINCA/NOMID) syndrome has the most severe phenotype. Canakinumab, a monoclonal antibody that targets interleukin-1β, has been shown to be an effective treatment for resolving systemic inflammation. However, its efficacy for treating ophthalmic symptoms of this disorder remains unclear. Findings: A 64-year-old female reported episodes of nonpruritic urticaria, fever, aseptic meningitis, and bilateral sensorineural deafness. Her son had experienced similar symptoms. She was initially referred for ophthalmologic treatment for an infectious corneal ulcer. Examination of her right eye by slit lamp biomicroscopy showed diffuse conjunctival injection, corneal infiltrates, a corneal ulcer, and hypopyon. She was therefore treated aggressively with topical and systemic antibiotics in addition to antifungal medications. However, this was ineffective. Genetic analysis detected the heterozygous germline p.Asp303Asn mutation in the NLRP3 gene in both our patient and her son. She was therefore diagnosed with CINCA/NOMID syndrome based on her clinical manifestations. All of the patient’s physical and ophthalmic symptoms were resolved within a few days after the initiation of canakinumab treatment. During an 18-month follow-up period, no adverse events or severe infections were observed. Conclusions: Our case report indicates that canakinumab is effective not only for the treatment of systemic inflammation but also for treating ophthalmic involvement, such as recurrent stromal keratitis and anterior uveitis. © 2015, Hirano et al.

引用

页码：1 / 5

页数：4

共 17 条

[1] Feldmann J., Prieur A.-M., Quartier P., Et al., Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes, Am J Hum Genet, 71, pp. 198-203, (2002)
[2] Hassink S.G., Goldsmith D.P., Neonatal onset multisystem inflammatory disease, Arthritis Rheum, 26, pp. 668-673, (1983)
[3] Hawkins P.N., Lachmann H.J., Aganna E., McDermott M.F., Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra, Arthritis Rheum, 50, pp. 607-612, (2004)
[4] Lachmann H.J., Lowe P., Felix S.D., Et al., In vivo regulation of interleukin 1beta in patients with cryopyrin-associated periodic syndromes, J Exp Med, 206, pp. 1029-1036, (2009)
[5] Aksentijevich I., Nowak M., Mallah M., Et al., De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases, Arthritis Rheum, 46, pp. 3340-3348, (2002)
[6] Dinarello C.A., Mutations in cryopyrin: bypassing roadblocks in the caspase 1 inflammasome for interleukin-1beta secretion and disease activity, Arthritis Rheum, 56, pp. 2817-2822, (2007)
[7] Neven B., Prieur A.-M., Quartier Dit Maire P., Cryopyrinopathies: update on pathogenesis and treatment, Nat Clin Pract Rheumatol, 4, pp. 481-489, (2008)
[8] Gattorno M., Tassi S., Carta S., Et al., Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations, Arthritis Rheum, 56, pp. 3138-3148, (2007)
[9] Prieur A.M., Griscelli C., Lampert F., Et al., A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients, Scand J Rheumatol Suppl, 66, pp. 57-68, (1987)
[10] Inamo Y., Kin H., Fujita Y., Et al., Chronic, infantile, neurological, cutaneous and articular syndrome in Japan

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