Yasemin Uğur Es

Objective: Neuropsychiatric (NP) involvement in juvenile onset systemic lupus erythematosus (jSLE) is associated with increased morbidity and diagnostic challenges. Data regarding pediatric populations remain limited. This study aimed to determine the prevalence, clinical features, imaging findings, and treatment outcomes of neuropsychiatric SLE (NPSLE) at a tertiary pediatric rheumatology center. Materials and Methods: This retrospective study included 46 jSLE patients followed between 2015 and 2025. Patients were classified as NPSLE or non-NPSLE. Demographic, clinical, laboratory, imaging, and treatment data were analyzed. Results: NPSLE was identified in 14 (30.4%) patients, and it was predominantly observed at disease onset. Patients with NPSLE had significantly higher disease activity at the time of diagnosis (p=0.001). Seizures (n=5, 10.8%) and depression (n=2, 4.3%) were the most common symptoms. Anti-ribosomal P antibody positivity was more common in NPSLE patients (p=0.019). Macrophage activation syndrome was observed in 3 (6.5%) patients, all of whom were in the NPSLE group. All patients received corticosteroids and hydroxychloroquine, and most were treated with cyclophosphamide. At the final follow-up, disease activity had significantly decreased, and most patients achieved low disease activity without neurological sequelae. Conclusion: NPSLE is a common and severe manifestation of jSLE and is associated with high disease activity. Early and aggressive immunosuppressive therapy may play a critical role in controlling disease activity and improving prognosis.

Objectives: With advances in genetic testing, monogenic lupus is increasingly recognized, yet disease-specific classification criteria are lacking. We compared all three classification criteria sets in the same monogenic lupus cohort and, for the first time, evaluated their performance across distinct genetic pathways. Methods: This national multicentre study included 88 genetically confirmed monogenic lupus patients from 22 paediatric rheumatology centres across Türkiye. Fulfilment of the AmericanCollege of Rheumatology (ACR)-1997, Systemic Lupus International Collaborating Clinics (SLICC)-2012 and European League Against Rheumatism (EULAR)/ACR-2019 criteria and pathway-based differences in classification performance were assessed. Results: Overall, 74% (n = 65) fulfilled ACR-1997, 70.5% (n = 62) SLICC-2012 and EULAR/ACR-2019 criteria, and 62.5% (n = 55) met all three, whereas 17% (n = 15) met none. Agreement was substantial (κ = 0.63–0.73), with no significant differences between criteria (P > 0.05). Classification performance differed significantly across genetic pathways (P < 0.05), with the highest fulfilment performances in complement deficiencies and the lowest in nucleic acid metabolism and type I interferon pathway defects. Most patients who did not fulfil any classification criteria had nucleic acid metabolism and clearance defects (13/15, 86.7%). Domain-level analyses showed that classification success was mainly driven by mucocutaneous, immunologic and renal domains. Complement and immune-regulation defects showed a more classical lupus phenotype, with most fulfilling all three criteria (78.6%, 22/28 and 77.8%, 14/18), whereas the proportion was lower in type I interferon pathway and nucleic acid metabolism and clearance defects (33.3%, 2/6 and 47.2%, 17/36). No classification criteria were superior within genetic pathways. Conclusion: One-third of genetically confirmed monogenic lupus patients remained unclassified, particularly those with interferon-related and nucleic acid metabolism defects, highlighting pathway-dependent limitations of current classification criteria.

Objective: Juvenile idiopathic inflammatory myopathies (JIIM) exhibit heterogeneous presentation, and intravenous immunoglobulin (IVIG) is often required in refractory cases. This study aimed to identify the clinical characteristics associated with IVIG use. Methods: This retrospective study included patients aged 0–18 years who fulfilled the Bohan and Peter and/or 2017 EULAR/ACR criteria for JIIM and were followed between March 2009 and August 2025. Demographic, clinical, laboratory, and treatment data were recorded. Results: Thirty-eight patients were included; 29 (76.3%) had juvenile dermatomyositis. Sixteen patients received IVIG. Severe or unresponsive muscle weakness was the main indication (56.3%). IVIG-treated patients had significantly lower Childhood Myositis Assessment Scale (CMAS) scores at diagnosis and at the third month, higher AST levels, more frequent nailfold capillaroscopy abnormalities, and lower remission rates. Each one-point decrease in CMAS increased the odds of IVIG use. Additionally, the third-month CMAS score was the only independent predictor for IVIG therapy. Conclusion: In conclusion, IVIG is an effective treatment option for patients with more severe and refractory JIIM. These patients are characterized by lower CMAS scores and marked microvascular involvement. Earlier use of IVIG as a steroid-sparing strategy may help restrict adverse effects.

Objective: Systemic juvenile idiopathic arthritis (JIA) is a subgroup of JIA that can involve multiple systems other than the joints. Macrophage activation syndrome (MAS) is a life-threatening condition that can be observed in patients with systemic JIA. The aim of this study was to evaluate the performance of the ferritin/erythrocyte sedimentation rate (ESR) ratio, a diagnostic parameter for MAS, in our cohort. Materials and Methods: Children with systemic JIA who were followed in our hospital’s pediatric rheumatology department and diagnosed with MAS were retrospectively recorded for the presence or absence of MAS. The performance of the ferritin/ESR ratio between these patient groups was analyzed. Results: The study included 45 patients with systemic JIA without MAS and 11 patients with systemic JIA with MAS. No differences were observed between the two groups in terms of age, gender, and follow-up duration (p =0.121, p = 0.547, and p = 0.495, respectively). The JADAS-27 score, which includes rash, hepatomegaly, splenomegaly, and disease activity score, was significantly higher in the systemic JIA group with MAS (all p)38.84 had high sensitivity and specificity for predicting the development of MAS in patients with systemic JIA in our cohort.

Amaç: İmmünoglobulin A vasküliti (IgAV), çocukluk çağının en sık görülen vasküliti olup klinik seyri değişkenlik gösterebilmektedir. Bu çalışmada, tanı yaşının IgAV’de klinik, laboratuvar bulgular ve hastalık şiddeti üzerindeki etkisinin değerlendirilmesi amaçlandı. Yöntem: Bu retrospektif, tek merkezli çalışmaya Ocak 2020–Aralık 2025 tarihleri arasında EULAR/PRINTO/PRES kriterlerine göre IgAV olarak sınıflandırılan 403 hasta dahil edildi. Hastalar tanı yaşına göre <7 yaş ve ≥7 yaş olarak iki gruba ayrıldı. Demografik, klinik, laboratuvar bulgular ve tedavi özellikleri karşılaştırıldı. Hastalık şiddeti Pediatrik Vaskülit Aktivite Skoru (PVAS) ile değerlendirildi. Bulgular: Ortanca tanı yaşı 86 ay (IQR: 59–108) olup hastaların %52,1’i (n=210) erkekti. Tüm hastalarda cilt tutulumu mevcut olup, bunu gastrointestinal sistem (GİS) (n=134, %33,3) ve eklem (n=90, %22,3) tutulumu izledi. ≥7 yaş grubunda PVAS skorunun daha yüksek olduğu ve GİS tutulumunun daha sık görüldüğü saptandı (sırasıyla; p<0,001, p=0,033). Ayrıca siklofosfamid ve kolşisin kullanımının bu grupta daha fazla olduğu görüldü (sırasıyla; p=0,043, p=0,032). Renal tutulum ve nüks oranları açısından gruplar arasında anlamlı fark saptanmadı. MEFV geninde özellikle ekzon 10 mutasyonları ≥7 yaş grubunda daha sık bulundu (p=0,003). Sonuç: IgAV’de ileri tanı yaşı, daha yüksek hastalık aktivitesi, daha sık GİS tutulumu ve daha yoğun tedavi gereksinimi ile ilişkilidir. Bu bulgular, tanı yaşının hastalık seyrini öngörmede önemli bir belirteç olabileceğini düşündürmektedir.

Objectives: Familial Mediterranean fever (FMF) shows marked phenotypic variability depending upon age at symptom onset. This study compared clinical characteristics, genetic variants, and disease severity of paediatric FMF patients according to age at symptom onset. Methods: This study included 1203 paediatric FMF patients followed 2015 through 2025. Patients were classified into two groups based on age at symptom onset: <10 or ≥10 years. Demographic, clinical, genetic, and treatment-related variables were compared between groups. Multivariate logistic regression analysis identified factors independently associated with age at symptom onset ≥10 years. Results: Symptoms began at <10 years in 1043 patients (86.7%) and at ≥10 years in 160 patients (13.3%). Patients with later onset had shorter diagnostic delay (P < 0.05). Fever and abdominal pain were more common in patients with onset <10 years (P < 0.001), whereas chest pain (29.3% vs. 21.5%, P = 0.029) and arthritis (25.6% vs. 14.5%, P < 0.001) were more frequent in those with onset ≥10 years. M694V homozygosity was significantly less frequent in the ≥10 group (13.1% vs. 26.9%, P = 0.004). In multivariate analysis, age at symptom onset ≥10 years was independently associated with lower fever frequency (odds ratio [OR] 0.32, 95% confidence interval [CI] 0.22 to 0.46) and higher chest pain frequency (OR 1.63, 95% CI 1.07 to 2.49). Conclusion: Age at symptom onset is closely related to clinical phenotype in paediatric FMF. Adolescent-onset FMF is more frequently characterized by chest pain. These findings highlight the importance of considering FMF in adolescents with recurrent chest pain, even without typical febrile attacks.

Objective: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems and is characterized by periods of flare-ups and remission. In approximately 15-20% of SLE patients, clinical symptoms onset during childhood or adolescence and are defined as juvenile SLE (jSLE). Age at disease onset has been suggested to influence the clinical phenotype, severity of inflammatory activity, and overall disease course in jSLE. The aim of this study was to compare clinical features and disease course between prepubertal (<10 years) and pubertal (≥10 years) jSLE patients. Materials and Methods: This retrospective, single-center, cross-sectional study was conducted on patients diagnosed with jSLE who were followed up at the pediatric rheumatology clinic between January 2015 and September 2025. Patients included in the study had been diagnosed with jSLE according to the 2012 Systemic Lupus International Collaborating Clinics classification criteria. Results: A total of 54 patients with juvenile-onset SLE were included, of whom 88.9% were female. Patients were grouped according to age at diagnosis: prepubertal-onset jSLE (<10 years) included 9 patients (16.7%), and pubertal-onset jSLE (≥10 years) included 45 patients (83.3%). Fever and elevated C-reactive protein levels were significantly more common in jSLE with pre-pubertal onset, whereas mucocutaneous involvement was more prevalent in jSLE with pubertal onset. Renal, hematological, and neurological involvement, autoantibody profiles, and disease activity and damage index at diagnosis were similar across groups. At the last visit, disease activity was significantly lower in jSLE with pre-pubertal onset. No differences in treatment were observed between age groups. Conclusion: In this cohort, prepubertal-onset jSLE tended to present with more prominent inflammatory features, whereas pubertal-onset jSLE more often showed mucocutaneous involvement. Despite these observed phenotypic differences, cumulative organ damage appeared similar between groups.