Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: A cohort study to determine three- and five-year outcomes
| Autor: | Patrick Kicker, Joseph G. Dolan, Zachary Phillips, Joseph Snow, Christopher K. Zalewski, Frank Pucino, Cailin H. Sibley, N. Plass, Edythe Wiggs, John A. Butman, Christopher Snyder, Scott M. Paul, Kelly A. King, Robert Wesley, Dawn Chapelle, Raphaela Goldbach-Mansky, Brigitte C. Widemann, H. Jeffrey Kim, Nalini Jayaprakash, Deborah L. Stone, Carmen C. Brewer, Rachel Bishop, Suvimol Hill |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Immunology NALP3 Systemic inflammation Article Rheumatology Familial Cold Autoinflammatory Syndrome Surveys and Questionnaires medicine Humans Immunology and Allergy Pharmacology (medical) Child Inflammation Anakinra biology business.industry Infant Newborn Infant Aseptic meningitis Cryopyrin-associated periodic syndrome medicine.disease Rash Dermatology Cryopyrin-Associated Periodic Syndromes Interleukin 1 Receptor Antagonist Protein C-Reactive Protein Treatment Outcome Neonatal onset multisystem inflammatory disease Antirheumatic Agents Child Preschool Disease Progression biology.protein Female medicine.symptom business medicine.drug |
| Zdroj: | Arthritis & Rheumatism. 64:2375-2386 |
| ISSN: | 0004-3591 |
| Popis: | Neonatal-onset multisystem inflammatory disease (NOMID; also known as chronic infantile neurologic, cutaneous, articular syndrome) (MIM 607115) is the most severe clinical phenotype of a spectrum of autoinflammatory disorders caused by autosomal dominant mutations in CIAS1 or NLRP3 (also called NALP3 or PYPAF1), termed cryopyrin-associated periodic syndromes (CAPS) (1,2). Most patients with milder forms of CAPS (familial cold autoinflammatory syndrome and Muckle-Wells syndrome [MWS]) and NOMID patients present around birth with systemic inflammation, including fever and elevation of acute-phase reactants, conjunctivitis, and an urticaria-like rash. Hearing loss is seen in MWS patients but presents later in life than in NOMID patients. The severe organ-specific manifestations involving the eye, the severe manifestations in the central nervous system (CNS), with aseptic meningitis and ventriculomegaly, and the damage in the bone, with benign, tumor-like lesions, are seen only in NOMID patients (3). Before interleukin-1 (IL-1)–blocking therapy, disease-related progressive organ damage and treatment-related complications resulted in progressive hearing and vision loss, cognitive impairment, physical disability, and infections in NOMID patients and an estimated mortality of up to 20% before adulthood (4). The discovery that NLRP3 is a critical component of an IL-1–activating and secreting complex termed the NLRP3 inflammasome (5–7) suggested IL-1 as a therapeutic target. The pivotal role of IL-1 in causing the clinical manifestations of CAPS was indeed confirmed by clinical studies, initially using the short-acting IL-1 receptor antagonist anakinra (8–10) and, more recently, with 2 long-acting IL-1 inhibitors (11–13). While the short-term effects of IL-1–blocking agents on clinical symptoms and measures of systemic inflammation in the milder forms of CAPS are established, data on the effects of long-term IL-1 suppression on sustained clinical responses with regard to the organ-specific manifestations in NOMID are only recently emerging (14). In this open-label, long-term followup study, we evaluated the efficacy and safety of 36 and 60 months of IL-1–blocking therapy with the IL-1 receptor antagonist anakinra in controlling systemic and organ-specific inflammation and in preventing the progression of organ damage. |
| Databáze: | OpenAIRE |
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