Pediatric Rheumatology最新文献

{"title":"Pediatric immune-mediated necrotizing myopathy with anti-SRP antibodies targeting 19, 68, and 72 kda subunits.","authors":"Daigo Kato, Yoshitake Sato, Kanako Mitsunaga, Hiromi Aoyama, Naoko Okiyama, Ichizo Nishino, Minako Tomiita, Yuzaburo Inoue","doi":"10.1186/s12969-025-01119-x","DOIUrl":"10.1186/s12969-025-01119-x","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"67"},"PeriodicalIF":2.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12180195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytokines in saliva, serum, and temporomandibular joint synovial fluid in children with juvenile idiopathic arthritis: An explorative cross-sectional study.","authors":"Paula Frid, Josefine M Halbig, Per Alstergren, Johanna Rykke Berstad, Lena Cetrelli, Astrid Jullumstrø Feuerherm, Berit Flatø, Annika Rosen, Karen Rosendahl, Marite Rygg, Veronika Rypdal, Nils-Thomas Songstad, Berit Tømmerås, Ellen Nordal, Mohammed Al-Haroni","doi":"10.1186/s12969-025-01118-y","DOIUrl":"10.1186/s12969-025-01118-y","url":null,"abstract":"<p><strong>Background: </strong>Proinflammatory cytokines are central to disease mechanisms and important therapeutic targets in inflammatory chronic diseases. This exploratory study aimed to compare cytokine concentrations in saliva, serum, and temporomandibular joint (TMJ) synovial fluid in children with juvenile idiopathic arthritis (JIA) and controls.</p><p><strong>Methods: </strong>In this cross-sectional study, we included consecutive children with JIA and TMJ arthritis, planned for a TMJ corticosteroid injection, and non-JIA controls from three different centers in Norway. Data on demographics, disease activity, presence of TMJ arthritis, and medication were obtained. Samples of unstimulated saliva, serum, and TMJ synovial fluid were collected. The amount of recovered synovial fluid in each sample, collected by the push-and-pull technique, was quantified with the hydroxocobalamin method. Cytokine levels were analyzed using Luminex xMAP technology.</p><p><strong>Results: </strong>Fifteen patients with JIA and TMJ arthritis (JIA-TMJ) (median age 15.0 (interquartile range (IQR) 11.0-16.0) years) and 34 controls (median age 13.0 (IQR 9.8-15.0) years) were consecutively recruited. Samples of saliva (JIA-TMJ, n = 13, and controls, n = 28), serum (JIA-TMJ, n = 11, and controls, n = 16), and TMJ synovial fluid (JIA-TMJ, n = 8) were collected. In saliva from JIA-TMJ, we found significantly higher levels of the cytokines IL-1β, IL-4, IL-5, IL-9, IL-10, IL-12, IL-13, IL-17, Eotaxin, FGF basic, GM CSF, PDGF bb, TNF, and RANTES, while IP-10 was found in significantly lower concentration compared to controls. In serum, there were no significant differences in these cytokine concentrations between JIA-TMJ and controls. Three TMJ synovial samples fulfilled the strict sampling criteria and were included in the analysis. The level of detected cytokines in TMJ synovial samples was higher in JIA-TMJ compared to controls, as described in a previous Nordic study.</p><p><strong>Conclusions: </strong>In this exploratory study, several proinflammatory cytokines were found in higher concentrations in saliva in JIA-TMJ compared to saliva from the controls. No differences were seen in serum between the groups. Some pro- and anti-inflammatory cytokines detected in JIA-TMJ synovial fluid were found in higher concentrations compared to TMJ synovial fluid from healthy adult reference data.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"66"},"PeriodicalIF":2.8,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12172225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144318734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of long non-coding RNAs and circular RNAs in kawasaki disease: a systematic review.","authors":"Zahra Amirsardari, Mohammadmahdi Abbasi, Shana Ahadi, Aida Rezaee, Alireza Shalviri, Farnaz Shavandi, Reyhane Alidousti Shahraki, Mohammad Mahdavi, Mahshid Malakootian","doi":"10.1186/s12969-025-01087-2","DOIUrl":"10.1186/s12969-025-01087-2","url":null,"abstract":"<p><strong>Objective: </strong>Previous research has identified the significant roles of non-coding RNAs (ncRNAs) in Kawasaki disease (KD). This systematic review aims to elucidate the involvement and significance of long non-coding RNAs (lncRNAs) and circular RNAs (circRNAs) in the pathogenesis and progression of KD.</p><p><strong>Study design: </strong>A systematic search was conducted across four databases (PubMed, Embase, Scopus, and Web of Science) up to June 19, 2023, without year restrictions. The risk of bias was assessed using the Newcastle-Ottawa Scale.</p><p><strong>Results: </strong>This review included 9 studies encompassing a total of 1894 individuals diagnosed with KD. Seven lncRNAs-Slco4a1, SOCS2-AS1, SRA, HCG22, MHRT, XLOC_006277, and HSD11B1-AS1-were found to be associated with KD, including polymorphisms such as lncRNA rs1814343 C > T and AC008392.1 rs7248320. Additionally, four circRNAs-circRNA-3302, circ7632, circANRIL, and hsa_circ_0123996-were associated with KD.</p><p><strong>Conclusions: </strong>Both linear lncRNAs and circRNAs play critical roles in unraveling the mechanisms underlying KD, contributing to biomarker identification and potential therapeutic advances.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"65"},"PeriodicalIF":2.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12164146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and treatment of infantile Takayasu arteritis in the Chinese Han population: a single-center study.","authors":"Jia Zhu, Min Kang, Yingjie Xu, Dan Zhang, Tong Yue, Ming Li, Min Wen, Feifei Wu, Gaixiu Su, Yang Yang, Wenquan Niu, Jianming Lai","doi":"10.1186/s12969-025-01111-5","DOIUrl":"10.1186/s12969-025-01111-5","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"64"},"PeriodicalIF":2.8,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12153091/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Juvenile localized scleroderma: a large retrospective cohort study from a tertiary care center.","authors":"Bugra Han Egeli, Johnathan Dallas, Diana B Reusch, Katharina S Shaw, Stephen Gellis, Robert Sundel, Mary Beth Son, Ruth Ann Vleugels, Fatma Dedeoglu","doi":"10.1186/s12969-025-01116-0","DOIUrl":"10.1186/s12969-025-01116-0","url":null,"abstract":"<p><strong>Background: </strong>Juvenile localized scleroderma is a rare pediatric inflammatory disease that primarily affects the skin and subcutaneous tissue but also has the potential to impact deeper tissues and can be associated with extracutaneous manifestations, leading to substantial impairment and disability. Management approaches vary, but in recent years, expert groups have attempted to streamline the approach to care with consensus treatment plans.</p><p><strong>Methods: </strong>This retrospective cohort study included pediatric juvenile localized scleroderma patients with ≥ 3 years of follow-up identified within a 21-year period (1999-2020) at a single tertiary care pediatric hospital in the USA. Data on demographics, disease characteristics, and treatment trends were analyzed, with a focus on systemic versus topical therapy and treatment trends before and after the publication of the Childhood Arthritis and Rheumatology Research Alliance juvenile localized scleroderma consensus treatment plan in 2012.</p><p><strong>Results: </strong>A total of 101 juvenile localized scleroderma patients fulfilled our inclusion criteria. Sixty-three patients were treated with systemic therapy, and 38 were treated with topical therapy. Patients on systemic therapy were more commonly treated in a combined rheumatology-dermatology program (67%) or rheumatology clinic (30%), whereas those on topical therapy were primarily treated in a dermatology clinic (71%). Starting in 2013, a significantly greater percentage of all patients were treated in the combined program (47% vs. 20%, p = 0.008), and a significantly greater percentage of patients received systemic therapy (78% vs. 55%, p < 0.05).</p><p><strong>Conclusion: </strong>This juvenile localized scleroderma cohort is one of the largest reported from a single center and demonstrated an increase in the use of systemic therapy following the publication of the Childhood Arthritis and Rheumatology Research Alliance juvenile localized scleroderma consensus treatment plan in 2012. Further studies on long-term treatment outcomes and therapeutic approaches utilized when first-line treatment failures occur are warranted.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"63"},"PeriodicalIF":2.8,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12142819/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144250927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrative machine learning identifies robust inflammation-related diagnostic biomarkers and stratifies immune-heterogeneous subtypes in Kawasaki disease.","authors":"Xia Wang, Lin Zhang","doi":"10.1186/s12969-025-01114-2","DOIUrl":"10.1186/s12969-025-01114-2","url":null,"abstract":"<p><strong>Background: </strong>Kawasaki disease (KD), a pediatric systemic vasculitis, lacks reliable diagnostic biomarkers and exhibits immune heterogeneity, complicating clinical management. Current therapies face challenges in targeting specific immune pathways and predicting treatment responses.</p><p><strong>Methods: </strong>Multi-cohort transcriptomic data were integrated to identify inflammation-related genes (IRGs). Differential analysis, weighted gene co-expression network analysis (WGCNA), and machine learning algorithms (LASSO, Boruta, SVM-RFE, Random Forest) were applied to screen diagnostic biomarkers. Immune infiltration and molecular subtyping based on diagnostic biomarkers were analyzed, complemented by regulatory network analysis to explore transcriptional, pharmacological, and miRNA interactions.</p><p><strong>Results: </strong>Six robust diagnostic biomarkers (ADM, ALPL, FCGR1A, HP, S100A12, SLC22A4) were identified, achieving AUC > 0.9 in cohorts. KD exhibited elevated neutrophils, monocytes, and Tregs but reduced CD8 + T cells and cytolytic activity. Consensus clustering stratified KD into two immune-heterogeneous subtypes: Cluster1 (neutrophil/Treg-dominant, enriched in TLR signaling) and Cluster2 (B cell/CD8 + T cell-dominant, linked to cytolytic activity). Regulatory networks revealed subtype-specific transcriptional regulators and therapeutic agents.</p><p><strong>Conclusion: </strong>This study establishes inflammation-related diagnostic biomarkers and immune-stratified subtypes for KD, offering a framework for precision immunomodulatory therapies.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"61"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128390/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictive factors of comorbid attention-deficit/hyperactivity disorder in early systemic autoimmune and auto-inflammatory disorders.","authors":"Briac Daniel, Eric Acquaviva, Brigitte Bader-Meunier, Alexandre Belot, Glory Dingulu, Cecile Dumaine, Albert Faye, Marie-Louise Frémond, Laura Lavialle, Ulrich Meinzer, Pierre Quartier, Caroline Vinit, Richard Delorme, Isabelle Melki, Pierre Ellul","doi":"10.1186/s12969-025-01103-5","DOIUrl":"10.1186/s12969-025-01103-5","url":null,"abstract":"<p><strong>Background: </strong>The immune system is physiologically involved in brain development and homeostasis. Consequently, early immune-mediated events are known risk factors for neurodevelopmental disorders (NDD). We recently found that early systemic autoimmune and autoinflammatory disorders (ESAID) are associated with an increased risk of neurodevelopmental disorders due to the direct impact of inflammation on brain development. However not all ESAID patient will develop NDD. In this study, we aimed to better characterized the natural history of the NDD comorbidity and investigate the influence of others NDD risk factors in ESAID patients with ADHD (ESAID+/ADHD+; n = 14) compared to patient with ESAID without ADHD (ESAID+/ADHD-; n = 14) and patient with ADHD without ESAID (ESAID-/ADHD + = 35).</p><p><strong>Findings: </strong>We did a case control study using a cohort of ESAID patients (ARTEMIS) and an ADHD cohort (Robert Debre) and found that the onset of ADHD in patients with ESAID is associated with global cognitive brain impairment that does not appear to be due to shared genetic risk factors, reinforcing the hypothesis of an immune-mediated mechanism. Regarding the etiopathogenesis of this comorbidity, we found that low birth weight, a known risk factor for NDD, contributes to the development of ADHD in ESAID patients.</p><p><strong>Conclusions: </strong>Pediatricians, and in particular pediatric rheumatologists, need to be aware of the frequency of ADHD-related comorbidities in ESAID patients. They should therefore systematically look for NDD in ESAID patients, particularly in cases of low birth weight. Early detection and management of NDD is the only way to limit its impact on morbidity and life trajectory.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"62"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Two unique cases of eosinophilic granulomatosis with polyangiitis in childhood treated with anti-interleukin-5 therapy: infantile-onset and submandibular salivary gland involvement.","authors":"Evangelia Constantine, Adam M Bartholomeo, Inna Powers, Jerimiah L Lysinger, Pia J Hauk, Jordan Abbott, Heather H de Keyser, Nicholas J Gilman, Csaba Galambos, Angus Toland, Nicholas Willard, Jason Weinman, David Mong, Clara Lin, Jessica L Bloom","doi":"10.1186/s12969-025-01115-1","DOIUrl":"10.1186/s12969-025-01115-1","url":null,"abstract":"<p><strong>Background: </strong>ANCA-associated vasculitis is a systemic autoimmune disease involving small- and medium-sized blood vessels. Eosinophilic granulomatosis with polyangiitis (EGPA, previously Churg Strauss Syndrome) is the least common form in childhood with few cases reported. We present two unique pediatric cases, both of which were treated with anti-interleukin-5 therapy.</p><p><strong>Case presentation: </strong>Case one is a 13-year-old male with asthma and allergies who presented with one month of cough and periorbital edema and subsequently developed submandibular swelling. Evaluation identified chronic sinusitis, weight loss, positive c-ANCA and anti-MPO IgG antibodies, peripheral blood eosinophilia, pulmonary eosinophilia, tracheal and pulmonary nodules, and eosinophilic infiltration of the submandibular salivary gland with granulomas and fibrosis fitting a diagnosis of EGPA. He improved with glucocorticoids and mepolizumab with a significant partial response, and eventually switched to benralizumab and mycophenolate mofetil with complete response. Case two presented at 19-months-old in acute respiratory distress with a history of reactive airway disease. EGPA diagnosis was confirmed on lung biopsy (eosinophilic capillaritis and interstitial expansion of eosinophils) in the setting of anti-MPO and p-ANCA positivity. He has done very well on mepolizumab for three years.</p><p><strong>Conclusions: </strong>To our knowledge, this is the first reported case of submandibular salivary gland infiltrate in a child with EGPA and the youngest successfully treated patient with EGPA reported in the literature. These cases demonstrate the variation in age and disease manifestations seen in children with EGPA as well as positive responses to anti-interleukin-5 therapy. Children with EGPA may present with common or unusual complaints and require astute recognition to avoid delays in diagnosis and long-term damage.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"60"},"PeriodicalIF":2.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128228/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of childhood-onset systemic lupus erythematosus (cSLE) over the last two decades in Spain.","authors":"Alina Boteanu, Juan José Bethencourt, Joan Calzada-Hernández, Daniel Clemente, Juan Carlos Nieto-González, Covadonga López, Laura Luque, Inmaculada Calvo","doi":"10.1186/s12969-025-01113-3","DOIUrl":"10.1186/s12969-025-01113-3","url":null,"abstract":"<p><strong>Background: </strong>Childhood-onset systemic lupus erythematosus (cSLE) is a chronic multisystemic autoimmune disease with a more severe and life-threatening course than SLE in adults. Up to 50-80% of patients have renal or other major-organ involvement, such as in the neurological or nephrological systems, which results in significant morbidity and increased mortality.</p><p><strong>Main text: </strong>A search was conducted for lupus-related literature published by Spanish authors in PubMed, Science Direct, MEDES and SciELO databases. The search strategy was based on the keywords \"paediatric OR pediatric AND lupus AND Spain\" from 2005 to 2024. A manual search was also performed with the above keywords, including \"Clinical practice guidelines OR protocols OR recommendations\". Significant changes in the management of cSLE have occurred over the last 20 years in Spain. Since there is no consensus among experts at a national scale, the use of off-label drugs and the insufficiency of evidence-based recommendations have become widespread. Antimalarials and glucocorticoids have remained the cornerstone of treatment for several years. However, the side effects of the latter and their association with the accumulation of organ damage have led to the incorporation of immunosuppressants and biologic agents into clinical practice earlier in the course of the disease as glucocorticoids-sparing strategies. Recent advances in cSLE management include the application of the treat-to-target approach and the approval of intravenous belimumab for patients ≥ 5 years, while early results with subcutaneous belimumab in cSLE have as well demonstrated efficacy and safety.</p><p><strong>Conclusion: </strong>Despite the initiation of the Spanish Juvenile Systemic Lupus Erythematosus Registry in 2021, which aims to ascertain the outcomes of cSLE in Spanish patients, a consensus document for the management of these patients in Spain remains elusive. According to Treat to Target TaskGroup, treatment of cSLE should aim to ensure long-term survival and prevent organ damage. The use of glucocorticoid-sparing strategies, including biological agents such as belimumab, represents one of the main current challenges. Indeed, subcutaneous belimumab could be a promising tool in cSLE, as its administration in school-aged patients might reduce school absenteeism and lead to an improvement in the child's overall health.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"59"},"PeriodicalIF":2.8,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144163372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis, management, and monitoring of interleukin-1 mediated diseases in Central and Eastern Europe: real-world data.","authors":"Marija Jelusic, Mario Sestan, Natasa Toplak, Constantin Tamas, Jelena Vojinovic, Zbigniew Zuber, Beata Wolska-Kusnierz, Mihaela Sparchez, Milos Jesenak, Skirmante Rusoniene, Valda Stanevica, Pavla Dolezalova, Liora Harel, Yosef Uziel, Marco Gattorno","doi":"10.1186/s12969-025-01105-3","DOIUrl":"10.1186/s12969-025-01105-3","url":null,"abstract":"<p><strong>Background: </strong>Global healthcare disparities, stemming from organizational differences in healthcare systems, lead to variable availability and funding, resulting in a gap between recommended and implemented practices for interleukin (IL)-1-mediated autoinflammatory diseases. We aimed to assess diagnostic, treatment and follow-up options for these diseases in Central and Eastern European countries, comparing them with the 2021 recommendations of the European Alliance of Associations for Rheumatology (EULAR)/American College of Rheumatology (ACR).</p><p><strong>Methods: </strong>In 2023, a structured collaborative effort was organized with representatives from 10 Central and Eastern European countries to address autoinflammatory diseases. The discussion focused on potential strategies to achieve the goals mentioned above.</p><p><strong>Results: </strong>Almost all the participating countries have specialized centers for the diagnosis and treatment of autoinflammatory diseases and the care is provided either by rheumatologists and/or clinical immunologists. Genetic testing is available in all countries, but there is variation in the types of tests offered. Massive parallel sequencing panels for autoinflammatory diseases are available in all countries, with waiting periods for results ranging from 3 to 6 months in most cases. The availability of disease-specific laboratory assessments, such as S100 proteins, is limited. IL-1 inhibitors are available in all countries, but there are differences in practices regarding the licensing and reimbursement of anakinra and canakinumab based on specific indications or diagnoses. The age at which the transition process begins varies, but in most countries, it typically starts around the age of 18 or beyond and in majority of the participating countries there is no structured transition program.</p><p><strong>Conclusions: </strong>Adherence to the 2021 EULAR/ACR recommendations for IL-1-mediated autoinflammatory diseases is achievable in Central and Eastern European countries. Determining the prevalence and incidence of these diseases in this region remains a persistent challenge for future research efforts, with the overarching goal of identifying new patients with autoinflammatory diseases.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"56"},"PeriodicalIF":2.8,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12100914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144128748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}