BACKGROUND: Systemic corticosteroids are cornerstone therapies in pediatric inflammatory diseases. Despite their clinical importance, both parents and clinicians may harbor substantial concerns regarding steroid-related adverse effects. While “steroidophobia” has been extensively studied in the context of topical corticosteroids, no validated instrument exists to assess clinician-based attitudes toward systemic corticosteroid use. This study aimed to develop and validate novel psychometric tools to measure systemic steroidophobia among clinicians. METHODS: A methodological, multicenter study was conducted between June and October 2025 among pediatric rheumatology specialists and fellows. Two draft instruments were developed: the Oral Corticosteroid Phobia Scale (21 items) and the Intravenous Corticosteroid Phobia Scale (22 items). Face and content validity were evaluated through expert review. Item analysis, exploratory and confirmatory factor analyses, internal consistency (Cronbach’s alpha), and test–retest reliability were performed. RESULTS: A total of 121 clinicians participated. After item reduction, the oral scale comprised 15 items and the intravenous scale 16 items, each demonstrating a two-factor structure. The Oral Corticosteroid Phobia Scale explained 63.5% of total variance (Cronbach’s alpha = 0.908), and the Intravenous Corticosteroid Phobia Scale explained 66.4% (Cronbach’s alpha = 0.935). Test–retest reliability was excellent (ICC = 0.902 and 0.930, respectively). Model fit indices indicated good construct validity. Lower phobia scores were observed among clinicians with longer pediatric rheumatology experience. CONCLUSIONS: The developed scales demonstrated acceptable validity and reliability for assessing clinician-based systemic steroidophobia. These tools may facilitate a more systematic and objective identification of attitudinal barriers toward corticosteroid use and may serve as formative educational instruments in residency training and continuing medical education. Further validation across different pediatric subspecialties and countries is warranted.
Colchicine-resistant familial Mediterranean fever (cr-FMF) represents a therapeutic challenge, and anakinra, a recombinant interleukin-1 receptor antagonist, is widely used in clinical practice. Our aim was to describe real-world practices of pediatric rheumatologists regarding anakinra use in patients with cr-FMF, with a focus on treatment initiation, tapering strategies, and discontinuation approaches. This survey-based study included pediatric rheumatologists with at least one year of clinical experience in managing cr-FMF. The survey assessed physician characteristics, treatment practices including initiation, tapering, and discontinuation strategies. Data were collected via an online survey platform between September and November 2025. A total of 81 pediatric rheumatologists participated, mostly practicing in Türkiye (92.6%). Most respondents preferred once-daily anakinra at 1-2 mg/kg/day and assessed response within the first month. Among tapering strategies, 90.1% favored interval extension, most commonly every 3 days or weekly. 79.0% considered discontinuation after sustained remission (median 6 months). During tapering-related flares, clinicians preferred interval shortening (43.2%) or dose escalation (37.0%), while 19.8% switched to an alternative biologic. After discontinuation-related relapse, 81.5% restarted anakinra at the previous effective dose. While anakinra initiation and relapse management appear relatively consistent, tapering and discontinuation strategies remain highly variable, underscoring the need for evidence-based guidance.
The purpose of the study is to evaluate the demographic characteristics, clinical features, and management strategies of TNF inhibitor-related autoimmune disorders (TIRAIDs) in pediatric rheumatology practice. The medical records of 71 pediatric patients treated with a TNF inhibitor for a rheumatologic disease and who exhibited any TIRAIDs during a 10-year period were retrospectively evaluated. The prevalence of TIRAIDs was 2.8% among 2450 pediatric patients who needed to use any TNF inhibitor drugs due to a rheumatologic disease. There was a female predominance (n = 40, 56%). TIRAIDs were observed in 49 patients (69%) receiving etanercept, 16 patients (23%) receiving adalimumab, and 6 patients (8%) receiving infliximab. The median time to TIRAIDs was 21.6 months. Non-infectious uveitis (38%) was the most common TIRAID, followed by paradoxical psoriasis (PP) (25%), lupus-like disease (8%), multiple sclerosis (7%), episcleritis (7%), and hidradenitis suppurativa (1%). In 58% of patients, treatment was switched to another TNF inhibitor, while in 42%, it was switched to a non-TNF biological therapy and/or cDMARDs. Complete resolution of TIRAIDs was observed in 63% of the patients. C-reactive protein levels and Juvenile Arthritis Disease Activity Score-27 were significantly higher during the development of TIRAIDs in patients with juvenile idiopathic arthritis compared to the remission period (p < 0.001 and p = 0.041, respectively). Among TIRAIDs, non-infectious uveitis and PP were the most frequently observed manifestations, predominantly occurring during etanercept treatment. Disease activity tended to increase during the onset of TIRAIDs. Discontinuation of TNF inhibitor therapy and switching to another biological treatment may be effective in achieving clinical remission.
Animal-assisted activities (AAAs) with therapy dogs have shown positive effects on patient well-being and quality of life in various areas of medicine, including pediatric oncology. However, research on this topic is limited. The aim of this study is to present the current status of AAA in pediatric oncology in Germany, Austria, and Switzerland, to identify challenges, and to discuss potential implementation strategies. A German-language questionnaire of 43 items was developed by an interdisciplinary team of experts in pediatric oncology, including physicians, nurses, psychosocial staff, physiotherapists, and sports therapists. The survey was made available online to members of 72 institutions in Germany, Austria, and the German-speaking regions of Switzerland. Responses from 60 institutions (Germany, 54; Austria, 3; and Switzerland, 3) were analyzed. Currently, 9/60 centers (15%) offer AAA with therapy dogs in pediatric oncology, 36/60 (60%) are interested in establishing such programs. All centers offering AAA have developed guidelines or regulations for its implementation and report positive feedback from patients. The following challenges were identified: hygiene and safety concepts, legal protection, staff shortage, funding, lack of standardized guidelines, and scientific evidence. This study demonstrates strong interest in AAA in pediatric oncology with several institutions already implementing programs responsibly. Perceived benefits contrast with limited availability and structural barriers. Systematic evaluation in registries and appropriately designed studies, standardized guidelines, and collaborative networks are needed for broader, sustainable integration into acute pediatric oncology care. Pediatric oncology societies should play a key role in coordinating research efforts, study networks, and consensus-based standards.
BACKGROUND: The phenotypic heterogeneity and variable disease course of CAPS cannot be explained solely by NLRP3 mutations, suggesting additional environmental or modifying factors. This study aimed to characterize the phenotypic and genotypic features of Turkish-origin pediatric CAPS patients residing in Turkey (Turkish cohort) and Germany (German cohort). METHODS: This multicenter, retrospective study included Turkish-origin pediatric patients meeting CAPS criteria from centers in Germany and Turkey. Demographic, genetic, clinical, and treatment data were collected, and disease activity was assessed using PGA and PPGA. RESULTS: The study included 51 Turkish-origin pediatric CAPS patients (living in Turkey: 23; Germany: 28) with a median age of disease onset at 1 year and diagnosis at 4 years. The Turkish cohort had more pathogenic mutations and more severe phenotypes, while the German cohort predominantly carried VUS/Q703K variants with a mild phenotype. Diagnostic delay and attack duration were longer in the Turkish cohort; urticarial rash, fatigue, thoracic pain, fever, and aphthous ulcers were more frequent, whereas diarrhea, lymphadenopathy, and infection-triggered attacks predominated in the German cohort. Baseline disease activity was higher in the Turkish cohort, and most patients achieved remission at last visit under therapy—mainly above-standard doses of Canakinumab—whereas over half of the German cohort reached remission without treatment. VUS and Q703K subgroup: Among patients with similar genotypes (VUS/Q703K), the Turkish cohort presented with older age at diagnosis, longer diagnostic delay, more moderate phenotypes, and higher baseline disease activity, whereas the German cohort exhibited milder phenotypes, infection-triggered attacks, and gastrointestinal involvement. The Turkish cohort received Canakinumab or Anakinra more frequently, often with dose adjustments and above-standard doses, achieving complete remission frequently under therapy at last visit, while the German cohort more often reached remission without treatment. Non-remission and partial remission were observed exclusively in the Turkish cohort. CONCLUSION: These findings suggest that Turkish-origin pediatric CAPS patients living in Turkey, including those with similar VUS/Q703K genotypes, may experience higher disease activity and greater treatment dependence than their German counterparts. However, as most patients in our cohort carried low-penetrance VUS variants, these observations are not directly generalizable to individuals with clearly pathogenic NLRP3 genotypes. Overall, this supports the notion that factors beyond genetics, potentially including environmental or modifying influences, contribute to CAPS severity and warrant further investigation.
BACKGROUND AND OBJECTIVE: Children with rheumatic diseases experience social determinants of health that influence access to care and outcomes, yet data in pediatric rheumatology are limited. We aimed to characterize caregiver-reported social determinants of health in juvenile idiopathic arthritis, systemic lupus erythematosus, and juvenile dermatomyositis and assess disparities by diagnosis, language, ethnicity, insurance, and neighborhood disadvantage. METHODS: We conducted a cross-sectional study of 417 caregiver surveys administered in English or Spanish during routine clinic visits (February to May 2023). Surveys assessed education, health literacy, food security, housing stability, transportation, and social work needs. Neighborhood deprivation was quantified using the Area Deprivation Index. Associations between SDoH and sociodemographic factors, insurance, diagnosis, and area of deprivation index were analyzed using univariate and post-hoc tests with complete case analysis. RESULTS: Mean cohort age was 12.1 years; 74.1% were female, 77.0% White, and 36.1% Hispanic/Latino. Overall, 39.1% of caregivers reported ≥ 1 unmet social need, yet only 8.9% requested social work support. Unmet needs were highest among Spanish-speaking families (83%), Hispanic/Latino caregivers (56%), and publicly or uninsured households (59% and 45%). Systemic Lupus (44%) and Juvenile Dermatomyositis (34%) caregivers reported more food insecurity than Juvenile Arthritis (18%). Higher area of deprivation index was associated with lower caregiver education, limited health literacy, food insecurity, transportation barriers, and housing instability (all P < 0.05). CONCLUSIONS: Children with rheumatic disease experience substantial social determinants of health-related inequities, especially those with Systemic lupus or Juvenile dermatomyositis, Hispanic/Latino ethnicity, Spanish-speaking, or non/underinsurance. Incorporating area of deprivation index-informed social determinants of health screening into pediatric rheumatology may help identify high-risk families and guide targeted, equitable interventions.
Pediatric connective tissue disease-associated interstitial lung disease (CTD-ILD) is a rare but serious condition with limited clinical data; this study aimed to evaluate its clinical features, treatment strategies, and outcomes. A single-center retrospective study included 50 pediatric CTD-ILD patients with complete follow-up data from June 2018 to February 2024. Collected variables included age at CTD-ILD diagnosis (years), sex, underlying CTD, respiratory symptoms, chest HRCT findings, pulmonary function parameters (VC, FVC, FEV₁, FEV₁/FVC%, TLC, DLco), treatment regimens, and outcomes. All patients underwent HRCT, and follow-up data were obtained from electronic medical records. The median onset age was 10 years, with a female-to-male ratio of 4.56:1. Systemic lupus erythematosus (27/50, 54.00%) was the most common underlying disease, followed by MCTD and pSS. Nearly one-third of the patients (18/50, 36.0%) were asymptomatic; the most common symptom was cough (17/50, 34.0%), followed by dyspnea (8/50, 16.0%) and hypoxemia (6/50, 12.0%), while hemoptysis was rare (1/50, 2.0%). On HRCT, ground-glass opacities were the most common finding (25/50, 50.0%), followed by reticulation (11/50, 22.0%). All patients received corticosteroids for induction; CTX was used in 24/50 (48.0%) and MMF in 23/50 (46.0%). During maintenance, MMF was used in 45/50 (90.0%) of cases. Pulmonary function improved significantly at six and 12 months (P < 0.05), and HRCT showed radiological improvement in all patients with no progression at 1 year. Pediatric CTD-ILD often has an insidious onset with non-specific respiratory symptoms. Chest HRCT and pulmonary function testing are important tools for early evaluation and detection. In our cohort, treatment with corticosteroids and immunosuppressants was associated with improvements in lung function and imaging findings, supporting the potential benefit of early recognition and timely management.
The indications, dosage, and duration of systemic corticosteroid treatment may vary among pediatric rheumatologists (PRs) and adult rheumatologists (ARs) in daily clinical practice. This study aims to evaluate and compare practices, perceptions, and attitudes of PRs and ARs regarding the use of systemic corticosteroids. An online survey was administered to rheumatologists in Türkiye to assess their use of systemic corticosteroids in the management of rheumatic diseases. The questionnaire addressed preferred corticosteroid formulations, dosing and tapering strategies, monitoring and preventive measures for adverse effects, and vaccination practices. Sixty PRs and 40 ARs participated in the study. Prednisolone was most commonly preferred by PRs while almost all ARs used methylprednisolone. Weight-based dosing was favored by PRs whereas ARs preferred fixed-dose regimens. PRs more frequently preferred longer pulse corticosteroid therapy, whereas ARs most commonly used a 3-day pulse regimen. In contrast, ARs reported significantly longer durations of bridging and maintenance therapy. Delirium was reported significantly more often by ARs as a complication (p = 0.026). In pre-treatment evaluation, PRs more commonly assessed peripheral blood smear (p < 0.001) whereas ARs more frequently screened for hepatitis serology (p = 0.014). As preventive strategies, PRs were significantly more likely to request ophthalmologic examination (p = 0.005). Immunization assessment for meningococcal, measles-mumps-rubella, and varicella vaccines was significantly more common among PRs (p > 0.005, for all). Significant heterogeneity exists between PRs and ARs in systemic corticosteroids practices, highlighting the need for age-specific standardized protocols for dosing, preventive strategies, and complication monitoring. Graphical abstract available for this article.
Kawasaki disease is an acute systemic vasculitis that predominantly affects children under 5 years old and represents the leading cause of their acquired heart disease. The most serious complication involves the coronary arteries, leading to the formation of coronary artery aneurysms. The standard first-line therapy for KD consists of high-dose intravenous immunoglobulin combined with aspirin. However, for IVIG-resistant patients and adjunctive treatments such as interleukin-1 (IL-1) receptor antagonists. Despite promising experimental and clinical evidence, no comprehensive evaluation has systematically summarized the efficacy and safety of anakinra in KD patients unresponsive to conventional therapy. Therefore, this systematic review aims to compile and critically assess clinical data published between 2010 and 2024 on anakinra use in pediatric Kawasaki disease patients. Across approximately 60 reported pediatric cases derived from clinical trials, observational studies, and case reports, anakinra administration was consistently associated with rapid fever resolution (typically within 24–48 h) and marked reduction in inflammatory markers, particularly C-reactive protein. Coronary artery outcomes were variable and frequently reported qualitatively. In studies providing Z-score measurements, stabilization or regression of coronary dilatation was described in several cases, including occasional regression of giant aneurysms; however, progression despite therapy was also observed. Interpretation of vascular outcomes is limited by heterogeneity in timing of initiation, concomitant therapies, small sample sizes, and lack of comparator groups. Overall, evidence quality was judged to be low to very low according to GRADE principles due to methodological limitations and imprecision. Current data should therefore be considered exploratory and hypothesis-generating. Well-designed randomized controlled trials with standardized coronary outcome reporting are required to determine the definitive efficacy and long-term cardiovascular impact of anakinra in refractory Kawasaki disease.
Macrophage activation syndrome (MAS) complicating pediatric systemic lupus erythematosus (cSLE) is a life-threatening hyperinflammatory state driven by dysregulated cytokine release. A recent systematic literature review identified only a limited number of cSLE-MAS cases treated with IL-1 inhibitors, with variable efficacy, underscoring the need for evidence-based salvage strategies when first-line biologic therapy fails. We report a 17-year-old female with cSLE who developed secondary hemophagocytic lymphohistiocytosis/MAS fulfilling HLH-2004 criteria approximately 17 months after initial diagnosis, in the setting of medication nonadherence and nutritional failure. The MAS course was refractory to intravenous immunoglobulin, pulse methylprednisolone, dexamethasone, cyclosporine, and intravenous anakinra, and was further complicated by a secondary Clostridioides difficile superinfection precipitating a MAS flare with ferritin peaking at > 10,000 ng/mL. Following transfer to our institution, subcutaneous canakinumab at standard weight-based dosing produced prompt defervescence, sustained ferritin normalization, and clinical stabilization permitting transition to outpatient immunomodulation. This case highlights canakinumab as a viable salvage therapeutic option for patients with biologic-refractory cSLE-MAS. Emerging evidence supports an expanding role for selective IL-1β blockade in pediatric lupus-associated hyperinflammatory syndromes; prospective studies are needed to define optimal dosing, sequencing, and treatment duration.
Histiocytic necrotizing lymphadenitis (HNL) is a benign condition in children that is often misdiagnosed due to its clinical overlap with tuberculosis, rheumatic diseases, and lymphadenitis. The QuantiFERON-TB Gold In-Tube assay (TB-IGRA) is routinely used to rule out tuberculosis, but its Nil value (TB-Nil), which reflects background IFN-γ release, remains underutilized. Many studies suggest that elevated IFN-γ levels may aid in the differential diagnosis of HNL. In this study, we investigate the role of TB-Nil in diagnosing HNL. To investigate the relationship between TB-Nil values and the diagnosis of HNL, we retrospectively enrolled 48 patients who were diagnosed with HNL at the Women and Children's Medical Center, Guangzhou Medical University, between January 2019 and December 2024 and who had undergone TB-IGRA testing. Clinical data were extracted from the electronic medical record system. TB-Nil values were compared between HNL and other common causes of lymphadenitis, including systemic juvenile idiopathic arthritis (sJIA), Kawasaki disease (KD), and bacterial lymphadenitis (BL). Receiver operating characteristic (ROC) curve analysis was performed to evaluate diagnostic performance. Among the 48 enrolled patients with suspected HNL, 37 were confirmed by pathological diagnosis and the remaining 11 were diagnosed based on clinical criteria. The median Nil level was significantly elevated in HNL patients [0.82 IU/mL, interquartile range (IQR): 0.36-1.18] compared with patients with systemic juvenile idiopathic arthritis (sJIA, median = 0.07 IU/mL, P < 0.0001), Kawasaki disease (KD, median = 0.09 IU/mL, P < 0.0001) and Bacterial Lymphadenitis (BL, median = 0.09 IU/mL, P < 0.0001). Receiver operating characteristic (ROC) curve analysis revealed favorable diagnostic performance of the Nil index for identifying HNL, with an AUC of 0.8781 (95%CI: 0.8138-0.9424). The optimal cutoff value of TB-Nil was determined as 0.19 IU/mL for distinguishing HNL from the three control diseases (sJIA, KD and BL), corresponding to a sensitivity of 78.38% and a specificity of 91.67%. The routinely available yet often overlooked Nil value from the TB-IGRA is significantly elevated in pediatric HNL and demonstrates favorable diagnostic accuracy. It may serve as a practical, non-invasive adjunctive biomarker for the early differential diagnosis of HNL from other inflammatory diseases. Prospective multi-center studies are warranted to validate these findings.
This study aimed to analyze the allele frequencies and genotype distributions of key FKBP4 single nucleotide polymorphisms (SNPs) (rs11833878, rs1981655, and rs41456246) in pediatric systemic lupus erythematosus (pSLE) patients versus healthy controls and to evaluate their association with glucocorticoid (GC) treatment efficacy. Forty-five patients with pSLE and 45 age- and sex-matched healthy controls were recruited between October 2022 and June 2024. Genotyping was performed using the imLDR® kit. The patients received standard GC treatment. Clinical assessments (SLEDAI-2K, laboratory parameters, and GC dosage) were performed at baseline, 3, and 6 months. Genotypes at rs11833878 and rs41456246 were significantly correlated with clinical indicators. rs11833878 was associated with a significant difference in baseline platelet (PLT) count (P = 0.037) and PLT improvement at 3 months (P = 0.016). From baseline to 6 months, it correlated with SLEDAI-2K reduction (P = 0.019) and PLT change (P = 0.035). Between 3 and 6 months, it was associated with a 24-hour urinary protein reduction (P = 0.047). rs41456246 was associated with a significant difference in baseline white blood cell (WBC) count (P = 0.011) and GC dosage at 3 months (P = 0.029). From baseline to 6 months, it correlated with the magnitude of GC tapering (P = 0.021) and PLT improvement (P = 0.034). Between 3 and 6 months, it was associated with the extent of GC tapering (P = 0.011). No significant associations were found for rs1981655. FKBP4 polymorphisms may modulate the therapeutic response in pSLE, potentially influencing GC receptor function. rs11833878 was linked to improvements in PLT, SLEDAI-2K score, and proteinuria, whereas rs41456246 was associated with WBC, GC dosage, and PLT recovery. Genotyping these loci may serve as a valuable reference for developing personalized treatment strategies.
Systemic juvenile idiopathic arthritis (sJIA) is a severe autoinflammatory disease associated with substantial morbidity, including macrophage activation syndrome (MAS), sJIA-associated lung disease, and glucocorticoid (GC)-related toxicity. CARRA's FiRst Line Options for sJIA Treatment (FROST) study demonstrated favorable short-term outcomes with early biologic therapy, but long-term outcomes have not yet been described. Patients with new-onset sJIA enrolled in FROST (2016-2019) were followed longitudinally through the CARRA Registry. Four consensus treatment plans (CTPs) were evaluated, including IL-1 inhibition (either anakinra or canakinumab), IL-6 inhibition (tocilizumab), and two non-biologic arms (methotrexate or GC monotherapy). Long-term follow-up occurred through 36 months. The primary outcome was achievement of clinical inactive disease (CID) by Wallace/ACR provisional criteria without concurrent GC use at 24 and 36 months. Secondary outcomes included CID irrespective of GC use, cJADAS-10 ≤ 2.5 without fever, medication utilization, and adverse events. Adverse events were expressed as events per 100 person-years. Seventy-three patients were enrolled; 87.6% initiated biologic therapy making comparison to non-biologic therapy infeasible. At 24 and 36 months, 41 and 32 patients, respectively, had evaluable data for the primary outcome. CID without GC use was achieved by 58.5% of patients at 24 months and 65.5% at 36 months. At both time points, over 80% of patients achieved cJADAS-10 ≤ 2.5 without fever and without GC use. Nearly all patients were off GCs at 24 and 36 months (> 90%). The cumulative proportion of patients achieving CID at any time during follow-up increased to 78.8% by 24 months and 87.6% by 36 months. At last follow-up, 42.5% of patients were off all disease-modifying antirheumatic drugs (DMARDs). Over 228.2 person-years of observation, serious adverse events occurred at a rate of 6.6 per 100 person-years; MAS was the most common SAE. No cases of sJIA-associated lung disease were identified. Although results were limited by loss to follow-up, patients enrolled in FROST demonstrated increasing rates of CID and high rates of glucocorticoid discontinuation during long-term follow-up. Serious adverse events were uncommon and largely related to disease activity. These findings support early biologic therapy as an effective and durable first-line strategy for sJIA. Not applicable.
Methotrexate (MTX) is the anchor and most prescribed disease-modifying anti-rheumatic drug (DMARD) for inflammatory rheumatic diseases (IRDs). MTX can be very efficacious but can also have serious, life-threatening side effects. Adequate education and follow-up of patients/carers are therefore essential, and dedicated rheumatology nurse consultations are an important part of this. However, many patients across European countries lack access to nurse consultations, and there are no agreed-upon, defined standards of care for this topic. To develop points to consider (PtC), based on the best available evidence and experts' opinion, on the nursing education of patients (or carers) with IRDs taking MTX. A task force of adult and pediatric nurses (n=19) from 16 European countries, one rheumatologist, one pharmacist, and three patient-representatives, was established by the Portuguese Association of Health Professionals in Rheumatology. The group convened virtually to discuss the protocol for developing the PtC, including the research questions for a scoping review and for a European survey to collect patients'/careers', nurses' and rheumatologists' experiences and perceptions about MTX education. The results from these studies informed the development of the PtC statements, which were discussed and voted on in two virtual meetings and one online questionnaire. EULAR Standard Operating Procedures for the development of recommendations/PtC were followed. The consensus resulted in three overarching principles and six PtC. All PtC were based on available scientific evidence, and all obtained high levels of agreement (>8/10). These PtC emphasize the need for continuous, tailored education by trained nurses, the availability of diverse educational methods, and the support for self-management and adherence strategies. A set of PtC has been developed to improve the quality of care provided to patients with IRDs and their carers regarding the education and support nurses should provide on MTX use. The ultimate goal is to optimize MTX intake, improve efficacy, reduce side effects and ensure adherence to treatment. A plan is underway for the European implementation of these PtC, recognizing the crucial relevance of multi-professional rheumatology teamwork.
This study sought to evaluate the clinical implications of thrombocytopenia in pediatric patients diagnosed with systemic lupus erythematosus (SLE) and to explore its relationship with various disease features. Furthermore, the research aimed to identify risk factors that affect the occurrence of SLE-associated thrombocytopenia. A single-center retrospective study was conducted involving 236 pediatric patients diagnosed with SLE at Children's Hospital of Fudan University from January 2020 and December 2025. Clinical information and laboratory parameters, such as complement levels, autoantibody profiles, and platelet counts, were systematically collected. Participants were divided into two groups and those without, based on their platelet counts at the time they were diagnosed with SLE. The presence of thrombocytopenia was determined at diagnosis, and further subgroup analyses were carried out based on the severity of the condition. All statistical analyses, such as logistic regression and one-way ANOVA, were conducted using SPSS version 26.0. Thrombocytopenia was observed in 19.5% (46 out of 236) of the patients. In comparison to the cohort without thrombocytopenia, the thrombocytopenia group demonstrated significantly increased incidences of leukopenia, leukocyte reduction, and positivity for antiphospholipid antibody IgM, anti-β2-glycoprotein-1 antibody, and lupus anticoagulant (P < 0.05). Furthermore, severe thrombocytopenia (defined as a platelet count below 50 × 10⁹/L) was correlated with a markedly higher prevalence of lupus anticoagulant positivity relative to the mild-to-moderate thrombocytopenia subgroup. Logistic regression analysis revealed that leukopenia, elevated erythrocyte sedimentation rate (ESR), positivity for Anti-β2 glycoprotein 1 antibodies, high lupus anticoagulant, and neuropsychiatric manifestations were significantly associated with the presence of thrombocytopenia. Thrombocytopenia frequently occurs in pediatric patients with SLE and demonstrates a significant correlation with leukopenia, the presence of antiphospholipid antibodies, and involvement of major organs. Additionally, further multicenter prospective investigations are necessary to clarify the contribution of platelets to the pathogenesis of SLE. In clinical practice, when thrombocytopenia is identified in pediatric SLE patients, thorough evaluation for antiphospholipid antibodies and neuropsychiatric systemic lupus erythematosus (NPSLE) is warranted.
BACKGROUND: Lupus nephritis (LN) affects approximately 60–70% of children with systemic lupus erythematosus (cSLE). Clinical practice for childhood lupus nephritis (cLN) management in Saudi Arabia varies significantly between pediatric rheumatologists and nephrologists. Unified, evidence-based national guidelines are needed to standardize care and improve outcomes. We aimed to develop the first evidence-based Saudi consensus recommendations for the diagnosis, monitoring, and treatment of childhood LN through collaboration between pediatric rheumatologists and nephrologists. METHODS: A multidisciplinary working group developed evidence-based recommendations for cLN under the Saudi Rheumatology Society and Saudi Society of Nephrology and Transplantation. PICO questions guided a comprehensive literature search in Embase, PubMed, and Cochrane, extending the EULAR SHARE review (up to July 2013) to include studies through December 2022. Two independent reviewers screened, selected, and assessed studies, consulting adult LN guidelines when pediatric evidence was lacking. Recommendations were drafted and refined through a two-round e-Delphi process involving 20 national experts, with ≥70% agreement required for inclusion. Study quality was appraised using a modified Downs and Black checklist, and each statement was assigned a Level of Evidence and Grade of Recommendation per Oxford criteria. RESULTS: The consensus panel established comprehensive recommendations for early diagnosis, therapeutic goals, treatment by LN class, and supportive care in cLN. Early evaluation for renal involvement in all cSLE patients and timely biopsy were emphasized, using the 2018 ISN/RPS classification with added histopathologic criteria. Prognostic targets include ≥25% proteinuria reduction at 3 months, ≥50% at 6 months, and <0.7 g/day at 12 months. Class-specific therapy was outlined: corticosteroids (low–moderate dose) for Class I–II, with DMARDs if needed; high-dose corticosteroids + MMF as first-line for proliferative LN, cyclophosphamide as an alternative, and multi-target or biologic regimens for refractory disease. For pure membranous LN, corticosteroids + MMF are preferred, with other agents as second-line. Adjuvant recommendations include hydroxychloroquine, early ACEi/ARB, infection prevention, and ovarian protection during cyclophosphamide. CONCLUSION: These evidence-based, locally adapted guidelines aim to standardize and optimize the management of cLN in Saudi Arabia, improving early diagnosis, guiding treatment selection by LN class, and promoting supportive strategies to enhance renal outcomes, survival, and quality of life.
Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of pediatric kidney failure, but predicting individual progression remains challenging. This multicenter study developed and validated POCC, a machine learning model for predicting kidney failure risk at 1, 3, and 5 years post-diagnosis in CAKUT patients. Two versions were created using data from 2249 children. The general model achieved internal AUCs of 0.93-0.99 and external AUCs of 0.89-0.98 and 0.81-0.90 in two independent validations at pediatric and general hospitals, respectively. The specialized model, integrating congenital-hereditary features, achieved internal AUCs of 0.93-0.99 and external AUCs of 0.91-0.96 in pediatric hospitals. Deployed online, POCC demonstrated 90.7% accuracy in real-world validation. As the first tool for multi-timepoint risk prediction across diverse CAKUT subphenotypes per patient, POCC has strong potential to support personalized management.
Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children. Uveitis is the most frequent extra-articular manifestation of JIA and a major cause of visual morbidity. Despite advances in immunomodulatory therapy, many patients reach adulthood with active ocular inflammation or vision-threatening complications. The transition from pediatric to adult care represents a vulnerable period. The primary objective of our study is to describe ophthalmologic and rheumatologic disease characteristics at the time of transition from pediatric to adult care. We conducted a retrospective cohort study of patients with JIA and past or present uveitis who transitioned to adult rheumatology at Cochin Hospital between 2016 and 2024. Clinical, ophthalmologic, and therapeutic data were collected from electronic medical records. Descriptive statistics were performed. Comparative analyses were exploratory and intended to describe differences between subgroups rather than to test predefined hypotheses. A total of 46 patients were included. Median age at JIA diagnosis was 7.5 years [IQR 2.0-16.0] and median age at first uveitis was 6.0 years [IQR 3.0-12.2]. Median follow-up after transition was 2.44 years [IQR 1.17-3.94]. Most patients were female (80%, n = 37) and had oligoarticular JIA (59%, n = 27). Chronic uveitis predominated (83%, n = 38). Ocular complications occurred in 46% (n = 17), including cataract (24%, n = 11), glaucoma (20%, n = 9), and keratitis (7%, n = 3). Over half (57%, n = 13/23) experienced ≥ 5 flares since diagnosis. Biologic DMARDs were prescribed in 53% (n = 23/43), predominantly anti-TNF agents. This study highlights the substantial burden of JIA-associated uveitis at the time of transition to adult care, characterized by frequent complications, persistent disease activity, and a high need for biologic therapy. Our findings emphasize the necessity of structured and continuous ophthalmologic follow-up across all JIA subtypes, alongside close multidisciplinary collaboration, to prevent long-term ocular damage and preserve visual function.
To assess temporomandibular joint (TMJ) alterations using magnetic resonance imaging (MRI) in pediatric and young adult patients with juvenile idiopathic arthritis (JIA) and non-JIA inflammatory arthropathies, and to evaluate the added value of ultrasound (US). The study prospectively included three groups of patients: children with JIA; young adults under 35 years with JIA, and young adults under 35 years with non-JIA inflammatory arthropathies. All patients underwent joint count assessment, clinical examination of the TMJs, evaluation of global disease activity and TMJ MRI to identify inflammation or structural damage. TMJ US was additionally performed in the two young adult patient groups. Associations between clinical findings and MRI results were then analyzed using appropriate group comparison tests. Concordance between MRI and US findings was also calculated. A total of 41 patients were enrolled: 14 in the pediatric JIA group, 19 in the adult JIA group, and 8 in the adult non-JIA group. MRI analysis revealed significantly greater joint damage in adults compared to pediatric patients (p = 0.05). Tenderness on physical examination was significantly associated with MRI-detected joint damage (p = 0.01), whereas retrognathia was associated with MRI evidence of inflammation (p = 0.02) in all patients. The negative predictive value of clinical examination for detecting TMJ alterations was low (47.8%). US, performed in 18 out of the 27 adults, was compared with MRI findings and demonstrate poor concordance, with a sensitivity of 48% (95%CI 0.28-0.68), and a specificity of 73% (95%CI 0.47-0.99). TMJs alterations were common across all three patient groups. Clinical examination showed limited association with MRI-detected morphological lesions. MRI remains the gold standard for TMJ assessment, while the diagnostic performance of US requires optimization to enhance both sensitivity and specificity. "Comité Local d'Ethique Recherche (IRB) du CHU de Montpellier" no. IRB-MTP_2022_06_202201149.
To evaluate the impact of juvenile idiopathic arthritis (JIA) on the lives of children and young adults in Australia, including health care interactions, treatment, physical and mental health, social/familial impact, costs and quality of life, and to determine priorities for research. Cross-sectional online survey conducted from February through June 2023 across Australia of individuals 0-25 years diagnosed with JIA or their parents/caregivers. Analyses included descriptive statistics: percentages and counts for discrete variables and mean and SD for quantitative variables. Full text responses were coded into themes to quantify responses. Of 184 participants, mean age was 12 years; 67% were female. Participants averaged 25 visits annually to 5.6 health professionals. Blood tests and eye examinations averaged 4 and 3 per year, respectively. Over half (56%) had a hospitalization in the past year, of which 80% were day-stays. Medication use was high (97%), mostly conventional synthetic disease-modifying anti-rheumatic drugs (73.4%), non-steroidal anti-inflammatory drugs (73.4%), and biological disease-modifying anti-rheumatic drugs (53.3%) with adverse effects affecting 72%. The greatest health impact was on mental health (53%); half experienced moderate-severe pain and 30% required aids for daily living. Children missed 1 month of school/year. The greatest social impact on participants was sport (77%) and on families emotional health (59%). Mean annual government costs were 19 795 USD/participant. Quality of life measures were low with mean Pediatric Quality of Life Inventory score 54.5 and mean Child Health Utility instrument score 0.53. Priority research areas included long-term health impact, medication use, and physical impact. The broad burden of JIA highlights the need for models of holistic management that extend beyond clinical considerations to encompass and address the lived experience and needs of individuals and families affected by JIA.