若年性特発性関節炎

PURPOSE: To evaluate the effectiveness and safety of biologic therapy in patients with refractory non-infectious uveitis (NIU) in a real-world clinical setting. METHODS: A retrospective observational study was conducted at a tertiary eye care centre in South India between 2022 and 2025. Patients diagnosed with NIU, who were not responding to conventional treatment and had received biologics during this period, were included. Demographic details, anatomical classification, etiological diagnosis, type of biologic used, treatment duration, clinical outcomes, and adverse events were analysed. RESULTS: A total of 60 patients with refractory NIU receiving biologic therapy were included. The mean age at biologic initiation was 23.1 ± 13.7 years, comprising 27 (45%) paediatric and 33 (55%) adults. The mean duration of uveitis prior to biologic initiation was 34.48 ± 52.36 months. Anterior uveitis was the most common (40%). Autoimmune etiologies predominated, with juvenile idiopathic arthritis-associated uveitis (28.3%), HLA-B27-associated uveitis (23.3%), and Behçet disease (20%). Adalimumab was the most frequently used biologic agent (88.3%) followed by Infliximab (5%), golimumab (3.3%) and tocilizumab (3.3%). Biologic therapy resulted in significant control of intraocular inflammation (p < 0.0001). Visual acuity remained stable throughout the follow-up. Treatment modification was required in 7 patients (11.7%). Side effects were observed in 3 (5%) patients, 2 (3.3%) showed inadequate response and 2 patients (3.3%) discontinued biologics due to financial constraints. CONCLUSION: Biologic therapy is an effective and safe therapy for refractory non-infectious uveitis across all age-groups and etiologies. Early escalation to biologics may help arrest long-term cumulative inflammatory damage and preserve visual function by sustained inflammatory control.

BACKGROUND: Vitamin D and vitamin D receptor (VDR) gene polymorphisms influence immune regulation, but their role in juvenile idiopathic arthritis (JIA) remains unclear. We aimed to examine the association between BsmI VDR gene polymorphism and JIA susceptibility in children and evaluate its relationship with inflammatory biomarkers. METHODS: Sixty-nine children with JIA and 69 healthy controls were enrolled over two years. Serum vitamin D levels were analyzed using the calcidiol 25-hydroxyvitamin D (25(OH)D) enzyme-linked immunosorbent assay (ELISA). Participants' biochemical and inflammatory markers, hematological parameters, demographics, medical histories, and dietary patterns were also assessed. Genotyping of the BsmI VDR gene polymorphism (rs1544410) was done using real-time polymerase chain reaction (PCR). RESULTS: Interleukin-6 (IL-6), erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP) were significantly higher in patients with JIA (p = 0.001, < 0.001, and < 0.001, respectively). The BsmI AA genotype was significantly associated with JIA (p < 0.001). Multivariate analysis revealed that the rs1544410 VDR gene polymorphism (AA versus GG) and age were independent factors associated with JIA (OR 8.404, 95% CI 2.835-24.913, p < 0.001; OR 1.325, 95% CI 1.063-1.653, p = 0.012, respectively). No significant differences were observed in inflammatory markers, tumor necrosis factor-alpha (TNF-α), IL-6, ESR, and CRP, among VDR genotypes (all p > 0.05). CONCLUSION: The BsmI (rs1544410) VDR gene polymorphism is significantly associated with susceptibility to JIA, with the AA genotype as an independent predictor. However, no significant relationship was observed between genotypes and inflammatory biomarkers, suggesting that this polymorphism may contribute to disease susceptibility rather than modulating inflammatory activity.

OBJECTIVES: This population-based study assesses comorbidities, autoimmune conditions and all-cause mortality in (1) adults with juvenile idiopathic arthritis (JIA) against general population comparators and (2) adults with JIA with versus without recent disease-modifying anti-rheumatic drug (DMARD) exposure. METHODS: We included adults who, between 2009-2024, had ≥ 2 specialist health contacts with a JIA-specific ICD-10 code in the mandatory Norwegian Patient Registry (NPR). Each case was matched randomly, by age, gender and county of residence, to 10 general population comparators at the time of receiving the 2nd JIA diagnosis in adulthood. We compared 5-year retrospective comorbidity prevalences in descriptive analyses and prospective all-cause mortality in (1) adults with JIA versus comparators and (2) adult JIA with versus without recent DMARD exposure. RESULTS: Adults with JIA (N = 2932) had higher prevalence than comparators (N = 29 097) of ischemic heart disease excluding myocardial infarction (JIA vs. comparators (%): 1.0 vs. 0.6), hypertension (3.6 vs. 1.4), chronic kidney disease (0.5 vs. 0.2), type 1 diabetes (1.7 vs. 0.7), celiac disease (1.4 vs. 0.7), autoimmune thyroiditis (0.3 vs. 0.1) and autoimmune alopecia (0.4 vs. 0.1). Prospective all-cause mortality was higher in JIA than comparators (mortality rate 2.4 vs. 1.8 per 1000 person-years). In adult JIA, prevalences of comorbidities and autoimmune conditions as well as all-cause mortality, was similar in those with and without recent DMARD exposure. CONCLUSION: In this study we found an increased 5-year retrospective prevalence of several comorbidities and increased all-cause mortality in adults with JIA compared to population controls.

OBJECTIVES: Isolated inflammatory markers have been proposed to assess systemic inflammation, but a comprehensive composite measure is still needed. The current study aimed to evaluate systemic inflammation in Pediatric Rheumatic Diseases by developing a biomarker-based composite systemic inflammation score (CSIS). METHODS: This prospective observational study enrolled 117 children with rheumatic diseases-systemic-onset juvenile idiopathic arthritis (SOJIA), systemic lupus erythematosus (SLE), IgA vasculitis (IgAV), and Kawasaki disease (KD), along with 50 age, gender and temporal matched healthy controls. Associations between disease groups and inflammatory biomarkers [neutrophil-to-lymphocyte ratio (NLR), platelet count, ESR, CRP, D-dimer, procalcitonin, ferritin, fibrinogen, and albumin] were evaluated. The CSIS was developed using eight validated, routinely available parameters, with a total score ranging from 0 to 16. Prediction accuracy was evaluated with the area under the receiver operating characteristic curve (AUC). RESULTS: Comparative analysis demonstrated significantly higher levels of inflammatory markers in patients than in controls, including NLR, platelet count, erythrocyte ESR, CRP, D-dimer, ferritin, fibrinogen, and albumin (all p <0.001). These eight significantly associated biomarkers were incorporated into the scoring systems' development. The CSIS was stratified into four categories to reflect the degree of inflammatory burden: 0-2 (no inflammation), >2-7 (mild inflammation), >7-10 (moderate inflammation), and >10 (severe inflammation). CONCLUSIONS: The CSIS can be readily applied to gauge inflammation severity in the clinical setting. Changes in inflammation scores over time can also reflect disease progression or remission, allowing for timely interventions and better outcomes.

OBJECTIVES: Juvenile Idiopathic Arthritis (JIA) patients attend routine hospital check-ups, even when disease activity is low. These visits are time-consuming and costly. Replacing visits with home monitoring may reduce costs but should not affect safety and (perceived) quality of care. This non-inferiority study tested whether patients with inactive JIA could safely prolong visit-intervals by home monitoring disease activity using EuroQol EQ-5D-Y-5L and Juvenile Arthritis Multidimensional Assessment Report (JAMAR) questionnaires. METHODS: One regular three-monthly visit was replaced by home monitoring. Healthcare professionals evaluated responses to determine whether patients could safely prolong their visit-interval or needed a doctor's consultation. Flare percentages over the total study period and six months after baseline were compared with a historical flare percentage and with matched JIA patients using relative risks (RR) and a non-inferiority margin of 15%. Secondary outcomes were number of reminders, number of patients not completing home monitoring, and patient satisfaction. RESULTS: 84 patients aged between 6 and 20 years participated in the study. Eighteen patients had a visit before or after evaluation of the questionnaires. 63 had a prolonged interval, of whom seven experienced a flare. The study-wide flare percentage was 18.5%, the historical flare percentage was 18.4% (including non-inferiority margin). The RR for study-wide flares was 0.50 (95%CI: 0.29-0.86), showing non-inferiority. The study was underpowered for comparing flares after prolonged visit-intervals (RR: 0.77, 0.30-1.93). 92% showed interest in home monitoring more often. CONCLUSION: No clear evidence was found that increased visit-intervals with home monitoring poses a risk for missing disease flares. Reminders were necessary and patient satisfaction was high. TRIAL REGISTRATION: Clinicaltrials.gov.uk; NCT05603286.