022. Autoinflammatory disease in children - the spectrum of conditions seen in the Scottish Paediatric and Adolescent Rheumatology Network clinics

作者：Jo Walsh, Joyce Davidson, Mary Brennan, Janet Gardner‐Medwin, Gulshan Malik, Kirsten Healy, Julie Duncan, Helen Freeman, Mary Katherine Ray, David B. Lynn, Bridget Oates, Peter W Fowlie, Neil A. Martin, on behalf of the Scottish Paediatric and Adolescent Rheumatology Network · 发表于：Lara D. Veeken · 年份：2017 · DOI：10.1093/rheumatology/kex356.006 · 研究领域：Autoimmune and Inflammatory Disorders Research、Inflammasome and immune disorders、Immunodeficiency and Autoimmune Disorders

Background: The Scottish Paediatric and Adolescent Rheumatology Network (SPARN) is a National Managed Clinical Network that was established in 2009. The remit of SPARN is to ensure that all children with rheumatic conditions are diagnosed promptly and managed appropriately by local multidisciplinary teams, with input from a paediatric rheumatologist supporting each network clinic. As SPARN has established, patients with a wide variety of rare auto inflammatory conditions have been identified, diagnosed and are locally managed within the network clinics. Aims: We wished to demonstrate the spectrum of autoinflammatory disease seen in SPARN network clinics. We wished to understand the ability of the network to deliver local expert management to children with rare conditions. Methods: Patients with autoinflammatory disease were identified from the 13 SPARN network clinics in Scotland. Retrospective review of case notes and electronic records was undertaken to determine diagnosis, genetic mutation and treatment. Results: A total of 40 cases (definite and probable) were identified from clinics in 7 Health Board areas around Scotland. Cases seen are shown by diagnostic categories in Table 1. 17 children (10 CAPS, 3 TRAPS, 1 MVKD and 3 others) received anakinra during the course of their treatment; 8 remain on it. 5 children with CAPS moved on to canakinumab with good benefit. One child in the miscellaneous group unsuccessfully tried canakinunumab. 5 children received tocilizumab, 2 ...