Anti-interleukin 1 agents are used successfully in colchicine-resistant or intolerant Familial Mediterranean Fever (FMF) patients. Sixty-five patients with FMF who received canakinumab treatment for at least 6 months due to colchicine resistance or intolerance between 2016 and 2020 in our department were retrospectively analyzed. Canakinumab treatment was given subcutaneously every 4 weeks. After completing monthly canakinumab therapy over 12 months, in patients with complete remission, the dosing interval was extended to every 1.5 months for 6 months, then every 2 months for 6 months, and finally every 3 months for a year. In patients without disease activation, canakinumab treatment was discontinued at the end of 3 years and followed up with colchicine treatment. Patients who had a flare switched to the previous dosing interval. In patients with renal amyloidosis, monthly canakinumab treatment was continued without extending the dose intervals. The mean duration of canakinumab use in our patients was 31.4 ± 10.57 months (6–52 months). The mean age at onset of symptoms was 4.65 ± 3.84 (range, 1–18) years, and the mean age at diagnosis was 5.59 ± 3.9 (range, 4–19) years. Complete remission was achieved in 57 (87.6%) and partial remission in seven (10.7%) patients. One patient was unresponsive to treatment. Canakinumab treatment was discontinued in three patients with complete remission and one patient with drug resistance. Erythrocyte sedimentation rate (ESR) (51.85 ± 15.7 vs. 27.80 ± 13.73 mm/h) and C-reactive protein (CRP) [26 (3-73) vs. 5 (1–48) mg/L] values were compared before and after canakinumab treatment in attack-free periods, a significant decrease was found after canakinumab treatment (p < 0.001, p < 0.001, respectively). Bodyweight Z-scores (respectively −0.80 ± 0.86 vs. −0.49 ± 0.92) were compared, similarly, a statistically significant increase after canakinumab treatment (p < 0.001), but no significant increase in height Z scores (−1.00 ± 0.88 vs. −0.96 ± 0.94) (p = 0.445) was detected. Four patients had FMF-related renal amyloidosis. The decrease in proteinuria with canakinumab treatment was not statistically significant (p = 0.068). Cervical lymphadenitis developed in one and local reactions in two patients. No severe adverse effects requiring discontinuation of canakinumab treatment were observed. Our study showed that canakinumab treatment was highly effective, well-tolerated in pediatric FMF patients, and controlled extension of the canakinumab dose interval was safe.

Objectives: This study aimed to evaluate the predictability of the homozygous M694V genotype in paediatric FMF patients and to develop a clinical scoring system to enhance disease management strategies. Methods: This nationwide, multicentre, cross-sectional study included 3981 paediatric FMF patients with biallelic pathogenic variants in exon 10 of the Mediterranean fever gene. Patients were divided into two groups: group 1 (homozygous M694V) and group 2 (other variants). Data were collected from 37 paediatric rheumatology and/or nephrology clinics across Türkiye, covering patients followed between 2014 and 2023. Results: Group 1 had significantly earlier symptom onset (≤3 years: 49.8% vs 43.9%, P < 0.001) and diagnosis (median age: 5 years vs 5.8 years, P < 0.001) compared with group 2. A higher prevalence of family history of FMF was observed in group 1 (P < 0.001). Clinical manifestations, including arthritis (27.5%), erysipelas-like erythema (ELE) (20.3%) and protracted febrile myalgia syndrome (PFMS) (3.6%), were significantly more frequent in group 1 (P < 0.001 for all). Colchicine resistance was also higher in group 1 (18.1% vs 5.1%, P < 0.001). Logistic regression analysis showed that ≤3 years of age at symptom onset, family history, arthritis, myalgia, PFMS, ELE and splenomegaly were independent predictors of the homozygous M694V genotype. A clinical scoring system was proposed based on these findings. Conclusion: This study provides valuable insights into the clinical predictors of the homozygous M694V genotype in paediatric FMF. The proposed scoring system will support clinicians in prognosis assessment and treatment planning, contributing to improved patient outcomes.

Objective: This nationwide, multicenter study was conducted to assess the demographic and clinical features, treatment regimens, and prognosis of primary Sjögren disease (SjD) in childhood. Methods: This retrospective study included a total of 81 patients < 18 years of age from 21 pediatric rheumatology centers. Among these, 51 patients fulfilled the diagnosis of childhood SjD according to the 2016 American College of Rheumatology (ACR)/European Alliance of Associations for Rheumatology (EULAR) classification criteria. The remaining 30 patients—who did not fully meet these criteria but exhibited clinical and laboratory findings suggestive of SjD—were categorized as at risk for childhood SjD to highlight diagnostic challenges and the spectrum of early presentations, based on comprehensive clinical evaluation by experienced pediatric rheumatologists. Results: The cohort consisted of 81 patients (85.2% female, 14.8% male) with a median age at symptom onset of 11.4 years and a median follow-up of 24 months. Common clinical manifestations included dry mouth, dry eyes, arthralgia, fatigue, and parotitis. Fifty-one of the 81 patients met the 2016 ACR/EULAR classification criteria, whereas the remaining 30 were classified as an at-risk group. The most common clinical findings in the at-risk group were xerostomia (90%), arthralgia (56.7%), fatigue (50%), and dry eyes (43.3%). Dry mouth and peripheral nervous system involvements were found to be higher in patients categorized as at risk ( P = 0.03 and P = 0.02, respectively). Conclusion: The current classification criteria for childhood SjD appear to be inadequate, highlighting the need for pediatric-specific criteria that more accurately reflect the distinct clinical patterns observed in children.

Background/Objectives: The pathophysiology of juvenile idiopathic arthritis (JIA), the most widespread rheumatologically illness in juvenile period, is shaped by complex interactions between leukocytes and the cytokines they secrete. The aim of this research was to evaluate the severity of sleep disturbances and depression, which are closely associated with many diseases and can negatively impact the course of the illness, in patients with JIA using Beck Depression Inventory (BDI) and Sleep Disturbance Scale for Children (SDSC) scores and to investigate the relationship between these scores and laboratory findings in patients with JIA. Methods: The research involved 58 children with JIA and 71 healthy children as controls. BDI and SDSC scores of these groups were compared with laboratory findings and correlation analysis were performed. Results: In the JIA group, BDI and SDSC scores, C-reactive protein (CRP), red blood cell distribution width (RDW), erythrocyte sedimentation rate, neutrophil, and leukocyte counts, were higher than in the control group, while vitamin D values were lower. A positive relation was determined between BDI and SDSC scores in the JIA group, but no correlation was found in the control group. In the JIA group, both BDI and SDSC scores were found to be negatively related with leukocyte and neutrophil counts. In the control group, the BDI score was determined to be negatively correlated with CRP, vitamin D and RDW levels. Conclusions: Depression and sleep disorders may interact in patients with JIA, and their causal relationship with leukocyte and neutrophil levels should be investigated.

Background/Objectives: The effect of nutritional status on the prognosis of Familial Mediterranean Fever (FMF), a hereditary autoinflammatory illness, is unclear. This research aims to investigate whether nutritional status indicators, such as the Controlling Nutritional Status (CONUT) score and the Prognostic Nutritional Index (PNI), differ in kids with FMF compared to healthy kids. It also aims to investigate the possible relation between these indicators and the types of MEFV gene mutations detected in kids with FMF. Methods: The research included 90 kids with FMF and 90 healthy children as controls. The FMF group was further divided into three subgroups based on MEFV gene mutation status. The PNI and CONUT scores of these groups and subgroups were compared. Results: A difference was found in the distribution of CONUT scores in the FMF group compared to the healthy group. However, there was no difference in the distribution of PNI between the two groups. C-reactive protein, triglyceride, and total cholesterol values were higher in the FMF group than in the control group. A difference was also determined between the two groups in the distribution of total cholesterol scores categorized by CONUT score. A negative correlation was found between this categorized score and the number of symptom days. No significant difference was found in the distribution of PNI and CONUT scores among subgroups based on MEFV gene mutation status. Conclusions: In children with FMF, total cholesterol levels should be routinely monitored longitudinally, even if they remain within reference values, to prevent some complications in adulthood.