Pediatric Rheumatology最新文献

Background: The field of transitional care for chronic conditions in adolescents, notably juvenile idiopathic arthritis (JIA), is rapidly growing. Transitioning these patients to adult healthcare systems presents significant challenges in practical implementation. Consequently, it would be appropriate for each country to develop a transition program tailored to its specific infrastructure. To pursue this goal, a Delphi study was conducted to identify the key components of transitional care in JIA.

Methods: Three panels and two rounds were held consisting of adolescents and young adults, parents, and clinicians (pediatric or adult rheumatologists). As a result, feedback on acceptance of the key statements of transitional care was obtained using the Delphi method.

Results: Out of 102 contacted, 88 (86.3%) participants responded to the Round 1 survey, which included 48 clinicians, 20 youths, and 20 parents. In Round 2, the number of clinicians dropped to 29, while the number of youths and parents remained constant. Based on expert opinions, 29 statements were selected for the first round. Statements that received ≥ 70% approval in the first round advanced to the next round. Sixteen statements did not achieve ≥ 70% approval. Of the remaining, 12 were reviewed in the second round, while four were excluded.

Conclusion: Although consensus has been reached on the basic transitional care issues for JIA patients, several issues still need to be agreed upon. Acceptance and applicability of the final 20-item checklist in clinical practice are critical for advancing JIA transition care in Turkey.

Background: To assess the psychosocial impact of moderate-severe juvenile idiopathic arthritis (JIA) on patients and their families, among those who had been treated with at least one anti-tumor necrosis factor (anti-TNF-α), according to routine clinical practice in Spain.

Patients and methods: A 24-month observational, multicentric, cross-sectional and retrospective study was performed. Children diagnosed with JIA were enrolled at three tertiary-care Spanish hospitals. The study included children treated with biologic disease-modifying antirheumatic drugs (bDMARD) who participated in a previous study, the ITACA, and who continued follow-up in these pediatric rheumatology units. Patient health-related quality of life (HRQoL) was assessed using the Pediatric Quality of Life Inventory (PedsQL™). Caregivers completed an interview to gather information about school attendance, their children's participation in school and social activities, its impact on their jobs and social life and perceived psychosocial support. A descriptive statistical analysis of all the variables was performed. The Mann-Whitney-U test or Kruskall-Wallis H test were used to compare quantitative variables and Fisher's exact tests was used for qualitative variables. Tests were two-tailed with a significance level of 5%. The data were analyzed using SPSS V18.0 statistical software.

Results: One hundred and seven patients were included. Overall, patients were on inactive disease or low disease activity according to JADAS-71 score and had very low functional disability according to CHAQ score. Up to 94.4% of patients were receiving drug treatment, mainly with bDMARD in monotherapy (84.5%). Based on PedsQL, patients and parents referred a high HRQoL. School Functioning PedsQL domain achieved the lowest score. Work and social impact due to the child´s disease was greater for mothers than for fathers. The understanding of the disease was lower at school than in the with family and friends' environments.

Conclusion: Most of the patients had a high HRQoL and had controlled disease activity, despite having a negative psychosocial impact on some of them and their families, mainly on school functioning. Children's disease seems to involve greater work and psychosocial impacts for mothers than for fathers of children affected by JIA.

Objective: Juvenile idiopathic arthritis (JIA) is a common, chronic and inflammatory rheumatological disease of childhood. The disease can affect all synovial joints in the body. Temporomandibular joints (TMJs) are important areas of involvement in JIA, which are frequently involved but often not noticed because the involvement is usually asymptomatic. The aim of this study is to determine the frequency and risk factors of TMJ joint involvement in juvenile idiopathic arthritis patients admitted to our clinic, and to guide for early diagnosis and treatment.

Methods: Patients who applied to this study with the diagnosis of JIA between January 2014 and May 2017 at Pediatric Rheumatology Clinic, were followed up regularly in our clinic, had a accessible medical history, and a rheumatology polyclinic record. Patients with contrast-enhanced TMJ Magnetic Resonance Imaging (MRI) taken and reported by the radiologist were included.

Results: TMJ involvement was detected in 51.2% of the 41 patients included in the study. It was found that 71.5% of the patients with TMJ involvement were asymptomatic and 71.5% of the patients had chronic involvement. When the patients with and without TMJ involvement were compared according to the contrast-enhanced TMJ MRI results; In the patient group with involvement, the polyarticular onset subtype was seen at a higher rate (p = 0.005), the age of onset was earlier (p = 0.003), the disease duration was longer (p = 0.037), more joints were involved (p = 0.005), the ESR values ​​were higher (p = 0.0001), and the treatment compliance and treatment responses of the patients in this group were worse (p = 0.001, p = 0.0001).

Conclusion: TMJ involvement is common in JIA patients and can occur at any stage of the disease. It is often asymptomatic and progresses insidiously, leading to chronic and degenerative changes in the mandible at an early stage. Due to its asymptomatic nature, the insidious progression, and the risk of causing chronic, irreversible sequelae, it is crucial to screen high-risk JIA patients regularly with contrast-enhanced TMJ MRI, which remains the gold standard method. While specific risk factors are difficult to pinpoint, some factors may increase the likelihood of TMJ involvement. To better identify these high-risk patients and determine which individuals require regular screening, larger-scale and multicenter studies are essential.

Background: With increasing focus on patient-reported outcome measures (PROMs) in chronic rheumatic diseases, we aimed to evaluate the self-reported physical and psychosocial health in children with juvenile idiopathic arthritis (JIA) compared to matched population-based controls. Furthermore, we aimed to study the association of patient- and physician-reported outcome measures in JIA with patient-reported physical disability.

Methods: We used data from a Norwegian JIA cohort study (NorJIA), including clinical characteristics and outcome measures in participants with JIA and sex- and age-matched population-based controls. Self-reported physical and psychosocial health were assessed using the generic Child Health Questionnaire (CHQ). Comparisons between children with JIA and controls were performed by test of proportions for categorical variables and t-test for continuous variables. To evaluate the association of patient- and physician-reported outcome measures with patient-reported physical disability, assessed with the Child Health Assessment Questionnaire (CHAQ) in children with JIA, we used logistic regression to estimate adjusted odds ratio (OR) with 95% confidence interval (CI).

Results: In total, 221 participants with JIA (59.3% females, median age 12.7 years) and 207 controls with available data were included. In the JIA group, 24.3% scored below the norm for physical health (CHQ PhS < 40) and 8.7% scored below the norm for psychosocial health (CHQ PsS < 40). The corresponding numbers for the control group were 0.5% and 1.9%, respectively. In the JIA group, 57.9% reported physical disability (CHAQ > 0). Several patient-reported outcome measures, such as poor physical health (CHQ PhS < 40), disease-related pain, and the patient's global assessment of disease impact on wellbeing, were strongly associated with self-reported physical disability (CHAQ > 0), adjusted OR 19.0 (95% CI 5.6, 64.1), 14.1 (95% CI 6.8, 29.2), and 14.0 (95% CI 6.2, 31.6), respectively. Associations were also found for active disease according to Wallace (adjusted OR 36.3, 95% CI 10.3, 128.1), and physician-reported global assessment of disease activity (adjusted OR 6.2, 95% CI 3.1, 12.6).

Conclusions: The strong association between patient- and physician-reported outcome measures and patient-reported physical disability strengthens the importance of including the patient's voice in a comprehensive evaluation of patient outcome in JIA.

Trial registration: ClinicalTrials.gov (No: NCT03904459).

Background: Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation that results in an uncontrolled hyperinflammatory state. HLH is classified into two main categories: primary (familial) HLH and secondary (acquired) HLH. Secondary HLH can result from various underlying, including infection-associated hemophagocytic syndrome (IAHS) and macrophage activation syndrome (MAS) associated with rheumatologic disorders, among others. Epstein-Barr virus (EBV) often causes IAHS, but central nervous system (CNS) involvement is rare among systemic lupus erythematosus (SLE) patients. We report a case of EBV encephalitis associated with HLH in a patient with childhood-onset SLE.

Case presentation: A 12-year-old girl had received a diagnosis of SLE 2 months before presentation. After a period of inactive disease on treatment, fever and seizures, with altered mental status and hallucinations, developed over several weeks. A complete blood cell count (CBC) revealed pancytopenia, accompanied by elevated levels of inflammatory markers: 86 mm/hr erythrocyte sedimentation rate, 8.9 mg/dl c-reactive protein, and 3,966 ng/mL of ferritin. The differential diagnosis included active neuropsychiatric SLE, CNS infection and neurological manifestations in secondary HLH, which could have represented either IAHS or MAS. Meropenem and acyclovir were initially administered for clinical acute encephalitis, followed by pulse methylprednisolone; however, the fever persisted, and another CBC revealed progressive cytopenia. A bone marrow study showed hypocellularity and active hemophagocytic activity, and intravenous immunoglobulin was additionally given due to the diagnosis of HLH. Cerebrospinal fluid (CSF) analysis showed 60/mm³ white blood cells (N 55%, L 45%), 141 mg/dL glucose (0.7 blood-CSF glucose ratio), < 4 mg/dL protein; results of Gram stain and bacterial culture were negative. The viral encephalitis panel from the CSF confirmed EBV infection. Bone marrow immunohistochemistry examination revealed increasing levels of CD8 + T-cell and equivocal positive results for EBV-encoded RNA in situ hybridization; therefore, HLH potentially associated with EBV was diagnosed. After treatment with IVIg, cyclosporin A, and prednisolone, the patient's symptoms gradually improved and she was eventually able to return to school.

Conclusions: Our case highlights the importance of a thorough differential diagnosis, including EBV encephalitis associated with HLH, in patients with childhood SLE, particularly in cases of clinical deterioration occurs after initial treatment.

Background: Interstitial lung disease (ILD) is a serious complication in systemic juvenile idiopathic arthritis (SJIA). This study aimed to identify the clinical characteristics and prognosis of SJIA-ILD.

Methods: A two-center retrospective cohort study was conducted on patients newly diagnosed with SJIA in China from October 2010 to December 2021. Clinical characteristics, laboratory parameters, outcomes, and relapse rates were compared between ILD and non-ILD groups.

Results: A total of 176 children with SJIA were included, including 35 in ILD group and 141 in non-ILD group. The median age at onset of SJIA was 5.8 years (range 4.4-9.5) in patients with SJIA-ILD. It exhibited higher incidences of cervical spine (28.6%) and hip involvement (40.0%) in ILD group (P = 0.031 and P = 0.029, respectively). The incidence of macrophage activation syndrome (MAS) in ILD group reached up to 40%, significantly elevated than that in non-ILD group (P = 0.047). Children with ILD demonstrated a stronger inflammatory response and were more prone to developing lymphopenia (P = 0.009), requiring more combination therapy (P = 0.006) to control disease activity. 54.3% of patients received biologic therapies, with only three patient receiving biologics (one with IL-6 blockade, two with TNF inhibitor) prior to ILD onset and none receiving IL-1 blockade. The median follow-up duration was 6.0 years (range 3.9-9.5). The proportions of patients with SJIA-ILD achieving clinical inactive disease without glucocorticoids within 6 to 12 months of the treatment were significantly lower than control group (45.7% vs. 70.2%, P = 0.006). In ILD group, only 54.3% of patients achieved complete remission, and 17.1% were in a non-remission state, among whom two deaths from respiratory failure. There was no significant difference in disease relapse rates between the two groups (P > 0.05).

Conclusions: Patients with SJIA-ILD exhibited heightened inflammation, increased hip joint and cervical spine involvement, and were more susceptible to developing lymphopenia and MAS, suggesting a relatively poor prognosis. They required a prolonged time to control inflammation and more aggressive treatment strategies to achieve inactive status. The unsatisfactory rate of complete remission highlighted an urgent need for focused clinical strategies.