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Amaç: Juvenil idiyopatik artrit (JİA), çocukluk çağının en sık görülen kronik romatizmal hastalığıdır. Metotreksat (MTX), leflunomid (LFN) gibi hastalık modifiye edici antiromatizmal ilaçlar (DMARD) JİA'da birinci basamak tedavilerdir. MTX en sık reçete edilen ilaçtır ve çalışmalar ağırlıklı olarak MTX etkinliğini ve güvenliğini ele almaktadır. Ancak LFN ile ilgili veriler sınırlıdır. Bu çalışmada, JİA hastalarında LFN tedavisi ile ilgili kliniğimizin deneyimlerini sunmayı amaçladık. Gereç ve Yöntem: Bu retrospektif çalışmaya hastanemiz çocuk romatoloji polikliniğinde düzenli olarak takip edilen ve LFN tedavisi verilmiş JİA hastaları dahil edildi. Hasta demografik bilgileri, klinik ve laboratuvar özellikleri ile ilgili veriler tıbbi dosyalardan elde edildi. Bulgular: Çalışmaya ortanca (çeyrekler arası aralık) hastalık başlangıç yaşı 7,3 (3,1-12,0) yıl olan 18 hasta (15 kadın ve 3 erkek) dahil edildi. 8 hastada oligoartiküler JİA, 7 hastada poliartiküler JİA, 2 hastada sistemik JİA ve 1 hastada entezitle ilişkili artrit (ERA) vardı. Tüm hastalara başlangıç tedavisi olarak MTX verildi (ERA tanısı konan bir hasta sulfasalazin ile tedavi edildi hariç). Gastrointestinal sistem (GİS) intoleransı nedeniyle başlangıçta MTX alan tüm hastalarda MTX kesildi ve LFN tedavisi başlandı. Daha önce MTX alırken GİS intoleransı gelişen hastalık aktivitesi düşük olan yedi hastadan altısına LFN tedavisi verildi. Bu hastalarda LFN ile tam remisyon sağlandı. MTX ile remisyonda izlenen dört hastada hastalık aktivasyonu görüldü. Daha önce MTX intoleransı olan bu hastalara LFN tedavisi verildi. Dört hastanın üçünde LFN ile remisyon sağlandı. MTX ile remisyon sağlanamayan orta ve yüksek hastalık aktivitesine sahip altı hastaya biyolojik tedavi başlandı. Yeterli yanıt alınamayan bu hastalarda MTX kesilerek LFN tedavisi başlandı. LFN ve biyolojik ajan kombinasyonu ile sadece bir hastada inaktif hastalık elde edildi. ERA tanılı bir hastada sulfasalazin tedavisine yetersiz yanıt alması üzerine LFN tedavisine geçildi ve LFN ile tam remisyon elde edildi. Sonuçlar: LFN tedavisi, diğer DMARD'larla düşük hastalık aktivitesi ve/veya remisyonu olan ve ilaç kesildikten sonra nüks olan hastalarda faydalı olabilir.

Pediatric mixed connective tissue disease (MCTD) is a subgroup of overlap syndromes. We aimed to compare the characteristics and outcomes in children with MCTD and other overlap syndromes. All MCTD patients met either Kasukawa or Alarcon-Segovia and Villareal criteria. The patients with other overlap syndromes had the features of ≥ 2 autoimmune rheumatic diseases but did not meet MCTD diagnostic criteria. Thirty MCTD (F/M = 28/2) and thirty (F/M = 29/1) overlap patients were included (disease onset < 18 years). The most prominent phenotype at disease onset and the last visit was systemic lupus erythematosus (SLE) in the MCTD group; juvenile idiopathic arthritis and dermatomyositis/polymyositis, respectively, in the overlap group. At the last visit, systemic sclerosis (SSc) phenotype was more frequent among MCTD than overlap patients (60% vs. 33.3%; p = 0.038). The frequency of the predominant SLE phenotype had decreased (60% to 36.7%), while predominant SSc phenotype had increased (13.3% to 33.3%) during follow-up in MCTD patients. Weight loss (36.7% vs. 13.3%), digital ulcers (20% vs. 0), swollen hands (60% vs. 20%), Raynaud phenomenon (86.7% vs. 46.7%), hematologic involvement (70% vs. 26.7%), and anti-Sm positivity (29% vs. 3.3%) were more common, while Gottron papules (16.7% vs. 40%) were less frequent among MCTD than overlap patients (p < 0.05). A higher percentage of overlap patients achieved complete remission than MCTD patients (51.7% vs. 24.1%; p = 0.047). The disease phenotype and outcome differ between pediatric MCTD and other overlap syndromes where MCTD may be regarded as a more severe disease. Analyzing these patients could pave the way for early and effective treatment.

Objectives Behçet’s disease (BD) is a systemic vasculitis affecting many organ systems, with the involvement of all-sized arteries and veins. The study aims to determine the main characteristics of paediatric BD patients and also analyse the clustering phenotypes. Methods Demographic data, clinical manifestations, laboratory features, treatment schedules, and disease outcomes were achieved from patients’ charts retrospectively. A cluster analysis was performed according to the phenotype. Results A total of 225 (109 male/116 female) patients with BD were enrolled in the study. The median ages of disease onset and diagnosis were 131 (36–151) and 156 (36–192) months, respectively. According to cluster analysis, 132 (58.6%) patients belonged to the mucocutaneous-only cluster (C1), while 35 (15.6%) patients fitted to articular type (C2), 25 (11.1%) were in the ocular cluster (C3), 26 (11.6%) were in the vascular cluster (C4), and 7(3.1%) belonged to the gastrointestinal cluster (C5). Ocular and vascular clusters were more common in boys (p Conclusions These identified juvenile BD clusters express different phenotypes with different outcomes Our analysis may help clinicians to identify the disease subtypes accurately and to arrange personalized treatment.

Objectives To develop a novel scoring system to predict colchicine resistance in Familial Mediterranean fever (FMF) based on the initial features of the patients. Methods The medical records of patients were analyzed prior to the initiation of colchicine. After generating a predictive score in the initial cohort, it was applied to an independent cohort for external validation of effectiveness and reliability. Results Among 1418 patients with FMF, 56 (3.9%) were colchicine resistant (cr) and 1312 (96.1%) were colchicine responsive. Recurrent arthritis (4 points), protracted febrile myalgia (8 points), erysipelas-like erythema (2 points), exertional leg pain (2 points), and carrying M694V homozygous mutation (4 points) were determined as the parameters for predicting cr-FMF in the logistic regression model. The cut-off value of 9 was 87% sensitive and 82% specific to foresee the risk of cr-FMF in the receiver operating characteristic. Validation of the scoring system with an independent group (cr-FMF = 107, colchicine responsive = 1935) revealed that the cut-off value was 82% sensitive and 79% specific to identify the risk of cr-FMF. Conclusions By constructing this reliable and predictor tool, we enunciate that predicting cr-FMF at the initiation of the disease and interfering timely before the emergence of complications will be possible.

Introduction: Neuropsychiatric (NP) involvement is a restricted area in juvenile-onset systemic lupus erythematosus (jSLE). Aim: To investigate the prevalence, demographic and clinical features, and outcomes of the neurological involvement in the Turkish jSLE population. Methods: This study was based upon 24 referral centers' SLE cohorts, multicenter and multidisciplinary network in Turkey. Patient data were collected by a case report form which was standardized for NP definitions according to American Collage of Rheumatology (ACR). Systemic Lupus International Collab-orating Clinics/American College of Rheumatology Damage Index (SDI) neuropsychiatric part was used to determine NP damage. Variables were evaluated Ward's hierarchical clustering analyses, univariate, and multivariate logistic regression analyses. Results: A hundred forty-nine of 1107 jSLE patients had NP involvement (13.5%). The most common NPSLE findings were headache (50.3%), seizure (38.3%), and acute confusional state (33.6%). Five clusters were identified with all clinical and laboratory findings. The first two clusters involved neuropathies, demyelinating diseases, aseptic meningitis, and movement disorder. Cluster 3 involved headache, activ-ity markers and other SLE involvements. Idiopathic intracranial hypertension, cerebrovascular disease, cognitive dysfunction, psychiatric disorders and SLE antibodies were in the fourth, and acute confusional state was in the fifth cluster. In multivariate analysis, APA positivity; OR: 2.820, (%95CI: 1.002-7.939), P: 0,050, plasmapheresis; OR: 13.804 (%95CI: 2.785-68.432), P: 0,001, SLEDAI scores; OR: 1.115 (%95CI: (1.049-1.186), P: 0,001 were associated with increased risk for neurologic sequelae. Conclusion: We detected the prevalence of juvenile NPSLE manifestations in Turkey. We have identified five clusters that may shed light pathogenesis, treatment and prognosis of NP involvements. We also determined risk factors of neurological sequelae. Our study showed that new definitions NP involvements and sequelae for childhood period are needed. (c) 2023 Socie ' te ' franc,aise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.

Objective Juvenile idiopathic arthritis (JIA) is the most common autoimmune and familial Mediterranean fever (FMF) the most common autoinflammatory chronic rheumatic disease in childhood. We aimed first to identify developmental and behavioral problems of preschool-age children with common chronic rheumatic diseases, second to compare the diagnostic categories, and third to elucidate the associated factors with these difficulties. Method Of the 91 participants included in this study, 46 were children with rheumatic diseases (27 with JIA and 19 with FMF) and 45 were healthy children. The general developmental and emotional/behavioral problems of each child were evaluated by the Ages and Stages Questionnaire and Child Behavior Checklist-1½-5, respectively. The State-Trait Anxiety Inventory and Beck Depression Inventory were used for maternal well-being. Results Internalizing problem scores were increased, and the percentage of children who failed at least 1 developmental domain and experienced delays in fine motor and problem-solving domains were higher in children with chronic rheumatic diseases when compared with healthy children. Being in the group of rheumatic diseases, fewer maternal education years and higher screen time were found to be independent risk factors significantly associated with any developmental delay in the multivariable model. Maternal trait anxiety scores were positively associated with internalizing and total problems only in FMF. Conclusion Preschool-age children with a diagnosis of chronic rheumatic diseases were more vulnerable for developmental and behavioral problems compared with healthy children. The management of chronic rheumatic diseases in the early years should include the screening of developmental and behavioral problems.

Henoch-Schonlein purpura (HSP) is the most common childhood systemic vasculitis. The present study aims to investigate the effectiveness of the immature granulocyte (IG) percentage as a new marker for predicting internal organ involvement in HSP. This study included 75 patients aged below 18 years who were diagnosed with HSP. The mean age was 7.48±2.77 years. The male/female ratio was 1.14. The findings showed that 35 (46.7%) of the patients had an internal organ involvement. The mean IG percentage was 0.88±0.68 among the patient group with HSP internal organ involvement, while it was 0.31±0.15 in the group without internal organ involvement, and a significant difference was determined between the 2 groups (P=0.000). The findings showed that the patients with renal involvement had the highest mean IG percentage (IG; 1.00±0.21). When the cutoff value for the IG percentage was specified as 0.45 to predict internal organ involvement, the sensitivity was 77.1%, and the specificity was 85%. In this study, the findings showed that IG percentage increased among patients with internal organ involvement in HSP and that its sensitivity, specificity, and predictive values were higher in predicting internal organ involvement compared with other markers.

Background Systemic autoinflammatory diseases (SAIDs) are a group of hereditary diseases characterized by inflammatory attacks accompanied by clinical findings such as fever, skin rash, abdominal pain, and musculoskeletal symptoms and with high acute phase response. Objectives This study sought to define the characteristics, to report 24-month follow-up of children with SAIDs and to compare the performances of both the previously validated classification criteria Federici and new Eurofever/PRINTO classification criteria in a multicentre cohort under real-life conditions. Method The medical charts of 60 children diagnosed with SAIDs (CAPS, TRAPS and HIDS) who were followed up regularly every 1–3 months between 2010 and 2021 in 6 pediatric rheumatology centers in Turkey were retrospectively analyzed. Demographic data, clinical findings, laboratory results and treatments were recorded. All patients were analyzed by NGS panel containing 16 genes. Results A total of 60 patients with SAID were evaluated. Among them 30 (50%) were male and 30 (50%) were female. The median age at disease onset and diagnosis were 22 (0–193) months and 72 (2–213) months, respectively. The current age was median 10.3 (1.7–20.4) years. All patients were follow-up with a median 31 (6–97) months. Among 60 patients, 22 were diagnosed with CAPS, 8 with TRAPS and 30 with HIDS. The frequency of clinical symptoms was 95%, arthralgia 63.3%, gastrointestinal complaints 58.3%, urticarial rash 56.7%, myalgia 48.3%, lymphadenopathy 33.3%, respectively. Urticarial rash (86.4%), cold induced rash (45.5%) and arthritis (50%) were significantly higher in CAPS patients compared with other two groups (p< 0.05). Lymphadenopathy (46.7%) was more common in HIDS patients (p = 0.03). When we applied the diagnostic/classification criteria to our cohort, 71.7% met the Federici criteria, 53.3% fulfilled the Eurofever/PRINTO classification criteria. When performance of two diagnostic criteria (Federici and Eurofever/PRINTO criteria) was compared, the proportion of patients fulfilling the Eurofever/PRINTO criteria higher in TRAPS patients compared with other groups (p = 0.008). Statistically significant decreases were found in AIDAI scores, CRP, ESR levels from the 1st month and in the leucocyte counts from the 6th month of the treatment in CAPS patients (p = In HIDS patients, there was a statistically significant decrease in AIDAI scores and ESR levels from the 1st month, CRP levels from the 3rd month, and leucocyte counts from the 12th month of treatment (p = At the last visit, 93.3% of the patients were receiving anti-IL-1, 5% anti-IL-6, and 1.7% were receiving colchicine. Ninety percent of the patients were in complete remission. Conclusion We showed that the diagnostic/classification criteria may not always be sufficient to make the diagnosis, and there is still low agreement between clinical diagnoses and molecular analyzes. Anti-IL-1 treatments have been found to be quite effective in the treatment from the early period.

Objective Systemic juvenile idiopathic arthritis is one of the subtypes of juvenile idiopathic arthritis. This type of disease accounts for approximately 10–20% of all cases of juvenile idiopathic arthritis. It typically affects both sexes equally and is usually present in children under 5 years. This study aimed to evaluate the demographic and clinical features of patients who were followed up for the diagnosis of sJIA in a single centre, the treatments they received, the responses to the treatment and the course of the disease. Methods All patients with systemic juvenile idiopathic arthritis who were evaluated at Dr Sami Ulus Maternity Child Health and Diseases Training and Research Hospital, Department of Paediatric Rheumatology, between January 2017 and January 2020 were included in this study. Descriptive features, clinical information, medications, treatment responses and long-term prognosis of patients were evaluated retrospectively. Results The study included 40 patients. 60% (n=24) of the patients were female and 40% (n=16) were male. The diagnosis age of the patients was 7.77±4.82 years and the patients were followed up for an average of 48±41 months. All of the patients had fever at the time of diagnosis. The 3 most common clinical signs after fever were arthralgia, hepatomegaly and lymphadenopathy (65, 55 and 50%, respectively). Ten patients (32.5%) had macrophage activation syndrome at admission. No significant difference was detected between the groups with and without macrophage activation syndrome concerning age, gender and clinical findings. Leukocyte, haemoglobin, platelet and erythrocyte sedimentation rates were significantly lower in the macrophage activation syndrome group compared with the other group, and ferritin was significantly higher. The C-reactive protein value was higher in the group without macrophage activation syndrome, but the difference was not statistically significant. While all patients received corticosteroid therapy as the initial therapy, 87.5% of these patients were administered pulse methylprednisolone therapy. In the follow-up, 21 patients (52.5%) needed biological treatment. Twenty-seven patients (67.5%) had a monocyclic course, 3 patients (7.5%) had a polycyclic course and 10 patients (25%) had a persistent polyarticular course. Conclusion Early diagnosis and treatment of systemic juvenile idiopathic arthritis are important because of the risk of developing macrophage activation syndrome – the most lethal complication. In our evaluation, it was seen that laboratory parameters could provide more guidance than clinical findings. Although steroids are the cornerstone of therapy, biological agents are effective in patients who are not responsive to steroid therapy. Hintergrund Die systemische juvenile idiopathische Arthritis ist ein Subtyp der juvenilen idiopathischen Arthritis. Auf diesen Krankheitstyp entfallen etwa 10 bis 20% aller Falle von juveniler idiopathischer Arthritis. Er betrifft ublicherweise beide Geschlechter gleichermasen und tritt in der Regel bei Kindern unter funf Jahren auf. Ziel dieser Studie war die Bewertung der demografischen und klinischen Merkmale der in einem einzigen klinischen Zentrum mit sJIA diagnostizierten Patienten sowie deren Behandlungen, Reaktionen auf die Behandlung und Krankheitsverlauf. Methoden Alle zwischen Januar 2017 und Januar 2020 in der Abteilung fur padiatrische Rheumatologie des Dr.-Sami-Ulus-Kinderkrankenhauses untersuchten Patienten mit systemischer juveniler idiopathischer Arthritis wurden in diese Studie eingeschlossen. Deskriptive Merkmale, klinische Informationen, Medikamente, Ansprechen auf die Behandlung und die Langzeitprognose der Patienten wurden retrospektiv ausgewertet. Ergebnisse In diese Studie wurden 40 Patienten eingeschlossen. 60% (n=24) der Patienten waren weiblich und 40% (n = 16) waren mannlich. Das Diagnosealter der Patienten lag bei 7,77 ± 4,82 Jahren, und die Patienten wurden durchschnittlich 48 ± 41 Monate nachbeobachtet. Alle Patienten hatten zum Zeitpunkt der Diagnose Fieber. Die drei haufigsten klinischen Symptome nach Fieber waren Arthralgie (65%), Hepatomegalie (55%) und Lymphadenopathie (50%). Zehn der Patienten (32,5%) hatten bei Aufnahme ein Makrophagenaktivierungssyndrom. Es wurde kein signifikanter Unterschied zwischen den Gruppen mit und ohne Makrophagenaktivierungssyndrom in Bezug auf Alter und Geschlecht sowie klinische Befunde festgestellt. Die Erythrozytensedimentationrate von Leukozyten, Hamoglobin, Blutplattchen und Erythrozyten war in der MAS-Gruppe im Vergleich zur anderen Gruppe signifikant niedriger und der Ferritinspiegel war signifikant hoher. Die Konzentration des C-reaktiven Proteins war in der Gruppe ohne Makrophagenaktivierungssyndrom hoher, doch diese Erhohung war statistisch nicht signifikant. Laborparameter scheinen wichtiger zu sein als klinische Befunde. Alle Patienten erhielten als Ersttherapie eine Kortikosteroidtherapie, 87,5% von ihnen wurde eine Methylprednisolon-Stostherapie verabreicht. In der Nachuntersuchung benotigten 21 Patienten (52,5%) eine biologische Behandlung. 27 Patienten (67,5%) zeigten einen monozyklischen, 3 Patienten (7,5%) einen polyzyklischen und 10 Patienten (25%) einen persistierenden polyartikularen Verlauf. Schlussfolgerung Eine fruhzeitige Diagnose und Behandlung der systemischen juvenilen idiopathischen Arthritis ist wichtig, da das Risiko besteht, ein Makrophagenaktivierungssyndrom zu entwickeln – die todlichste Komplikation. In unserer Bewertung wurde festgestellt, dass Laborparameter richtungsweisender sein konnen als klinische Befunde. Obwohl Steroide den Eckpfeiler der Therapie darstellen, sind biologische Wirkstoffe bei Patienten wirksam, die nicht auf eine Steroidtherapie ansprechen.

Background Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatologic disease of childhood. The various subtypes of JIA differ in clinical features and treatments. The aim of this study was to analyze the frequency of JIA subtypes, patient demographic and clinical features, as well as the rates of macrophage activation syndrome, uveitis, and remission in Turkish JIA patients treated at a single center, and to compare the findings to those in the literature. Materials and methods The files of all JIA patients treated at our pediatric rheumatology department between January 2017 and January 2019 were retrospectively reviewed. Patient demographic, clinical, and laboratory data were obtained from the patients' files and hospital database. Results The study included 305 patients (180 females) with a mean age at onset of 7.83 ± 4.62 years. Among all the JIA subtypes, the most frequent was oligoarthritis (41.6%), followed by enthesitis-related arthritis (29.2%), rheumatoid factor (RF)-negative polyarthritis (13.4%) systemic arthritis (9.5%), RF-positive polyarthritis (2.6%), psoriatic arthritis (2.0%), and undifferentiated arthritis (1.6%). At the time of data collection 278 patients (91.0%) were in remission, whereas 27 patients (9.0%) had active disease. Macrophage activation syndrome developed in 12 of the 29 (41.0%) systemic arthritis. Uveitis was noted in 32 (10.0%) patients. Biological agents were administered in 142 of the patients. Conclusion The available data indicate that JIA as a whole is a heterogeneous disease with significant variability in course and long-term outcome. As such, each patient should be evaluated according to his/her disease subtype.

SLE is a disease of the adaptive immune system where T lymphocyte dysfunction has an important role as well. We assessed the plasma levels of checkpoint receptors expressed on T cells, along with Galectin-9 to reflect type-1 IFN activity and IL-2Rα in childhood SLE patients. Forty-nine children with SLE and15 healthy controls were included. SLEDAI scores were evaluated at the time of sampling. CD25 (IL-2Rα), 4-1BB, B7.2 (CD86), TGF-β1, CTLA-4, PD-L1, PD-1, Tim-3, LAG- 3, Galectin-9 levels were studied by cytometric bead-based multiplex assay panel. Galectin-9 and PD-L1 were significantly higher in SLE patients. Other checkpoint proteins and IL-2Rα were also higher but did not reach statistical significance. There were significant correlations between SLEDAI and IL-2Rα, Galectin-9 and PDL1. There were three clinical clusters: Cluster 1 included patients with no major organ involvement, cluster 2 had predominantly haematological involvement(n=16) and cluster 3 (n=11) had predominantly renal involvement. Checkpoint proteins were not different among these three clusters. Our data supports that Galectin 9 and IL-2Rα are good markers for disease activity in childhood SLE. We need larger series to evaluate differences between disease clusters in SLE. We failed to show a significant correlation with checkpoint proteins and SLEDAI except for PDL1.

Immunoglobulin A (IgA) vasculitis (also known as Henoch-Schonlein purpura) is the most common small vessel vasculitis of childhood. The long-term prognosis depends on renal involvement. The aim of this study was to evaluate the risk factors associated with renal involvement in children with IgA vasculitis and to investigate the best timing of urine examination to predict the presence of renal involvement at the sixth month after the diagnosis.In this prospective observational study, medical records, demographic data, clinical findings, laboratory tests, and urine microscopic examinations of pediatric patients diagnosed with IgA vasculitis were evaluated to identify potential risk factors associated with renal involvement.A total of 178 patients with a median age of 6 years were involved in the study. Renal involvement was found in 24 (13.5%) patients. Most of the patients (85.7%), whose urine examination was found to be abnormal at the sixth month after the diagnosis, also had abnormalities in the first month urine examination. Factors significantly associated with renal involvement were as follows: older age, presence of hematuria and or proteinuria in the first month urine examination and patients who presented the disease in the spring season. Multivariate logistic regression analysis showed age ≥8 years (This study has demonstrated that the optimal date to predict the presence of hematuria and/or proteinuria in the sixth month is the urine examination performed in the first month of the disease. Therefore, we think that patients with IgA vasculitis who show a presence of hematuria and/or proteinuria in the first-month urine examination should be followed more closely.

Background: The aim of this study was to evaluate the outcomes of patients with the multisystem inflammatory syndrome in children (MIS-C) according to phenotypes of disease and define the prognostic factors for the severe course. Methods: This cross-sectional study included 293 patients with MIS-C from seven pediatric rheumatology centers. A two-step cluster analysis was performed to define the spectrum of disease and their outcomes were compared between each group. Results: Four subgroups were identified as follows: cluster I, predominantly Kawasaki-like features (n = 100); cluster II, predominantly MAS-like features (n = 34); cluster III, predominantly LV dysfunction (n = 47); cluster IV, other presentations (n = 112). The duration of fever was longer in cluster II and the length of hospitalization was longer in both clusters II and III. Laboratory findings revealed lower lymphocyte and platelet counts and higher acute phase reactants (APRs) in cluster II, while patients in cluster IV showed less inflammation with lower APRs. The resolution of abnormal laboratory findings was longer in clusters II and III, while it was shortest in cluster IV. Seven patients died. Among them, four belonged to cluster II, while three were labeled as cluster III. Patients with severe course had higher levels of neutrophil–lymphocyte ratio, mean platelet volume, procalcitonin, ferritin, interleukin-6, fibrinogen, D-Dimer, BNP, and troponin-I, and lower levels of lymphocyte and platelet counts. Conclusion: As shown, MIS-C is not a single disease presenting with various clinical features and outcomes. Understanding the disease spectrum will provide individualized management.

Objective: Leg pain is a common complaint in childhood and is one of the most common causes of admission to pediatric rheumatology outpatient clinics. The aim of this study was to analyze the demographic data and etiology of patients presenting with leg pain and to reveal common causes. Material and Methods: The files of patients who presented to our pediatric rheumatology outpatient department between August 2018 and August 2019 due to leg pain were retrospectively reviewed. Patient demographic, clinical, and laboratory data were obtained from the patients’ files and hospital database. An information form that collected data on patient gender and current age, age at disease onset, age at diagnosis was completed for all patients. Results: The study included 270 patients with a mean age of 10.4 ± 4.8 years, including 170 (63%) females and 100 (37%) males. The mean age of onset of complaints was 9.1 ± 3.2 years. The most common cause of leg pain was hypermobility syndrome with 74 (27.4%) patients. Respectively, 41 (15%) patients were diagnosed with growing pain, 39 (14,4%) patients with Osgood-Schlatter disease, 32 (11,8%) patients with post-infectious arthritis / arthralgia, 28 (10,3%) patients with fibromyalgia, 20 (7,4%) patients with juvenile idiopathic arthritis. Two patients had acute lymphoblastic leukemia and 10 patients had acute rheumatic fever. All patients with fibromyalgia were girls and adolescents. 62.5% of leg pain was bilateral. 44% of patients really had leg pain. Although the complaint of presentation in other patients was leg pain, it was not the legs but the localized knee and ankles. Conclusion: Leg pain is a common complaint both in childhood and adolescence. Hypermobility syndrome was the most common cause in both periods. Osgood-Schlatter disease and fibromyalgia should be considered especially in adolescence and growing pain in childhood. In addition to these benign diseases, diseases such as juvenile idiopathic arthritis and acute rheumatic fever should be considered, especially when the joint is swollen. Leukemia’s, avascular necrosis and meniscopathies may also present with leg pain. As a result, leg pain in children is a complaint that should be considered and patients should be questioned well and differential diagnosis should be made well.

Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent, self-limited attacks of fever with serositis. Acute recurrent arthritis is the most commo...

Objectives: Familial Mediterranean fever (FMF) is a monogenic auto-inflammatory disease which might rarely cause glomerulopathy in patients. The aim of this study was to determine the clinical, demographic, and genetic characteristics and type of glomerular lesions in pediatric FMF patients who underwent kidney biopsy. Methods: The data of 30 pediatric FMF patients with biopsy-proven glomerulopathy were retrospectively reviewed. Patients were grouped into 2 categories as amyloid nephropathy (AN, n = 16) and non-amyloid nephropathy (N-AN, n = 14). Results: The mean age at FMF diagnosis was 7.2 ± 3.0 years. The AN group showed higher rates of hypertension, higher levels of 24-h protein excretion and serum creatinine, and lower estimated glomerular filtration rate at the time of kidney biopsy. The rate of ESRD was found to be higher in the AN group (p = 0.011). Mesangioproliferative glomerulonephritis was the most common pathology in the N-AN group (21.4%). The frequency of amyloidosis was significantly higher in patients with homozygous p.M694V mutations than non-homozygous p.M694V mutations (p = 0.039). Conclusions: In children with FMF, nephropathy is rare. To our knowledge, this is the first study performed in pediatric FMF patients exploring amyloid and non-amyloid glomerulopathies. Patients with AN had higher rates of proteinuria, lower estimated glomerular filtration rate levels, and higher blood pressure than N-AN patients at the time of biopsy.

Background Although not validated fully, recommendations are present for diagnosis, screening and treatment modalities of patients with familial Mediterranean fever (FMF). Objective To review the current practices of clinicians regarding FMF and reveal their adherence to consensus guidelines. Methods Fifteen key points selected regarding the diagnosis and management of FMF were assessed by 14 paediatric rheumatologists with a three-round modified Delphi panel. Results Consensus was reached on the following aspects: genetic analysis should be ordered to all patients when clinical findings support FMF, but its result is not decisive alone. In the absence of clinical features, colchicine should be commenced when two pathogenic alleles and family history of amyloidosis are present. Serum amyloid A testing at each visit is recommended in patients resistant to colchicine, with subclinical inflammation and family history of amyloidosis. Consensus was reached on both the definition of colchicine resistance and starting biologic in resistant cases. Cost, efficiency, ease of use, treatment adherence, accessibility and emergence of adverse events are the factors affecting the choice of biologic agents. In patients without any attack and evidence of subclinical inflammation within the last 6 months following initiation of biologics, treatment dose intervals can be prolonged. Conclusion A consensus was achieved regarding the routine diagnosis and screening and treatment of FMF patients. The definition of colchicine resistance was made and a protocol was created for prolongation of treatment intervals of biologic agents. We anticipate that the results of the study reveal real-life data on the approach to patients in clinical practice. Supplementary Information The online version contains supplementary material available at 10.1007/s00296-020-04776-1.

Introduction Blau syndrome or early-onset sarcoidosis is a rare monogenic autoinflammatory granulomatous disease. It occurs with an autosomal dominant mutation in the nucleotide-binding oligomerization domain containing 2 gene, and the clinical manifestations typically appear in the first 20 years of life. Untreated disease can cause severe disability and blindness. Therefore, early and effective treatment is especially important to prevent eye and joint complications. This study aimed to show that tumor necrosis factor (TNF) inhibitors such as adalimumab are a good treatment option for patients with Blau syndrome or early-onset sarcoidosis. Case report We report the case of a patient with early-onset sarcoidosis who showed the clinical triad of dermatitis, arthritis, and uveitis. The patient had a history of atopic dermatitis-like skin disease at the age of 1 year. At the age of 2.5, she presented with arthritis in bilateral symmetrical wrist and knee joints and with gait disturbance. Bilateral vitritis was detected at the follow-up eye examination performed at the age of 3.5. Treatment was initiated with adalimumab, to which the patient had a very good response, particularly regarding the ocular symptoms. Conclusion Patients with Blau syndrome or early-onset sarcoidosis may be mistakenly diagnosed with juvenile idiopathic arthritis. Eye involvement may be more aggressive in this disease. Treatment with TNF-alpha inhibitors seems to be promising for Blau syndrome patients who do not have a satisfactory response to corticosteroids and conventional disease-modifying antirheumatic drugs.

Objectives To determine the rate of achieving The Lupus Low Disease Activity State (LLDAS) in children with systemic lupus erythematosus (SLE) for tracing pertinent treatment modalities. Methods A total of 122 juvenile-onset SLE (jSLE) patients from six pediatric rheumatology centers in Turkey were enrolled in the study. LLDAS-50 was defined as encountering LLDAS for at least 50% of the observation time. According to the achievement of LLDAS-50, clinical features, immunological profiles, and treatments of patients with jSLE have been revealed. Results LLDAS of any duration was achieved by 82% of the cohort. Although only 10.8% of the patients achieved remission, 68.9% reached LLDAS-50. A significant difference was found between patients who reached LLDAS-50 and those who did not, in terms of the time to reach low-dose corticosteroid treatment ( p = 0.002), the presence of subacute cutaneous findings ( p = 0.007), and the presence of proteinuria ( p = 0.002). Both of the groups were under similar treatment approaches. However, the number of patients being treated with corticosteroids at the last visit was found to be significantly higher in patients who achieved LLDAS-50 ( pConclusion Targeting LLDAS in jSLE, even with long-term, low-dose corticosteroid use, seems to be an achievable goal in clinical practice.

To compare the clinical and laboratory findings of multisystem inflammatory syndrome in children (MIS-C), patients with Kawasaki disease (KD) and with macrophage activating syndrome due to systemic juvenile idiopathic arthritis (sJIA-MAS) on real-life data. Patients diagnosed with MIS-C, KD, and sJIA-MAS from 12 different centers in Turkey who were followed for at least 6 months were included in the study. Demographic, clinical, and laboratory findings of all patients were analyzed. A total of 154 MIS-C, 59 KD, and 31 sJIA-MAS patients were included. The median age of patients with MIS-C were higher than those with KD while lower than those with sJIA-MAS (8.2, 3, 12 years, respectively). Myalgia (39.6%), cardiac (50.6%), gastrointestinal (72.7%), and neurological (22.1%) involvements were more common in patients with MIS-C compared to others. MIS-C patients had lower levels of lymphocyte (950 vs 1700 cells/µl) and thrombocyte (173,000 vs 355,000 cells/µl) counts and higher pro-BNP (1108 vs 55 pg/ml) levels than KD. Ferritin levels were higher in patients with MIS-C compared to patients with KD while they were lower than patients with sJIA-MAS (440, 170, 10,442 ng/ml, respectively). Patients with MIS-C had a shorter duration of hospitalization than sJIA-MAS (p = 0.02) while they required intensive care unit admission more frequently (55 vs 8 patients, p < 0.001). The median MAS/sJIA score of MIS-C patients was ? 1.64 (? 5.23 to 9.68) and the median MAS/sJIA score of sJIA-MAS patients was ?2.81 ([? 3.79] to [? 1.27]). MIS-C patients displayed certain differences in clinical and laboratory features when compared to KD and sJIA-MAS. Definition of the differences and similarities between MIS-C and the other intense inflammatory syndromes of childhood such as KD and MAS will help the clinicians while making timely diagnosis. © 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Aim Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection may result in a life-threatening hyperinflammatory condition named multisystem inflammatory syndrome in children (MIS-C). We aimed to assess demographics, clinical presentations, laboratory characteristics and treatment outcomes of patients with MIS-C. Methods We performed a retrospective study of patients with MIS-C managed between August 2020 and March 2021 at Dr. Sami Ulus Maternity Child Health and Diseases Training and Research Hospital in Turkey. Results A total of 45 patients (23 male, 51%) with a median age of 8.7 years (interquartile range: 5.6-11.7 years) were enrolled to study. The SARS-CoV-2 serology was positive in 43 (95%) patients. Organ-system involvement included the dermatologic in 41 (91%), cardiovascular in 39 (87%), hematologic in 36 (80%) and gastrointestinal in 36 (80%) patients. Acute anterior uveitis was diagnosed in nine (20%) patients. Two patients presented with clinical findings of deep neck infection such as fever, neck pain, trismus, swelling and induration on the cervical lymph node. One patient presented with Henoch-Schonlein purpura-like eruption. Coronary artery dilatation was detected in five (11%) patients. For treatment of MIS-C, intravenous immunoglobulin was used in 44 (98%) patients, methylprednisolone in 27 (60%) and anakinra in 9 (20%) patients. The median duration of hospitalisation was nine days. All patients recovered. Conclusions Children with MIS-C might have variable clinical presentations. Acute anterior uveitis might be a prominent presentation of MIS-C and require ophthalmological examination. It is essential to make patient-based decisions and apply a stepwise approach for the treatment of this life-threatening disease.

Isotretinoin is widely used in severe acne. Isotretinoin has many side effects. Sacroiliitis is one of these side effects and has been rarely reported in the children. Herein, we present two children with isotretinoin-induced sacroiliitis resistant to anti-rheumatic drugs and successfully treated with adalimumab.

To explore the frequency of MEFV gene mutations in children with Henoch-Schönlein purpura who had no prior familial Mediterranean fever diagnosis and to evaluate the association of MEFV mutations with the clinical and laboratory features of Henoch-Schönlein purpura.Data of 1120 patients diagnosed with Henoch-Schönlein purpura were reviewed retrospectively. The spectrum and degree of organ involvement and acute phase reactant levels were documented for each patient. Blood for MEFV gene mutation analysis was obtained either at the time of the Henoch-Schönlein purpura diagnosis or during follow-up visits. Pathological specimens of patients who underwent biopsy (renal/skin) were evaluated with special consideration for immunofluorescent examinations.Two hundred and thirty-eight (21.3%) patients were found to have one of the MEFV mutations in which exon 10 mutations were the most common (16.7%). Abdominal pain, joint involvement, scrotal involvement, and relapse were more frequent, and acute-phase reactant levels were significantly high in patients with MEFV mutations. More severe characteristics were observed in the presence of homozygous exon 10 mutations. There was no significant association between exon 2 variants and clinical course of Henoch-Schönlein purpura. Patients carrying MEFV mutations did not have significantly higher levels of IgA deposits in the biopsy materials.Henoch-Schönlein purpura in patients with homozygous exon 10 MEFV mutations seems to be more severe than that in patients carrying other mutations. In patients with exon 10 MEFV mutations, Henoch-Schönlein purpura might be considered as an associated presentation of familial Mediterranean fever rather than a separate clinical entity. Key points • p.M694V mutation is more common in Henoch-Schönlein purpura than in the general population. • p.E148Q variants have no impact on clinical symptoms and laboratory findings in Henoch-Schönlein purpura patients. • The majority of Henoch-Schönlein purpura patients with familial Mediterranean fever have no IgA deposits. • Henoch-Schönlein purpura in familial Mediterranean fever patients may be considered as an integral clinical feature of familial Mediterranean fever.

Aim: The aim of this study was to determine the demographic, clinical, treatment, and outcome features of pediatric noninfectious uveitis patients at a Turkish tertiary center.Materials and methods: This retrospective cohort study included 101 pediatric patients with noninfectious uveitis. Location of uveitis, laterality, age at onset of uveitis, complications of uveitis, duration of follow-up, associated systemic diseases, laboratory findings, medications used, and status of uveitis at the time of data collection were obtained from the patients' files. The patients were divided into two groups according to etiology of uveitis, as follows; group 1: idiopathic noninfectious uveitis; group 2: noninfectious uveitis in association with an underlying systemic disease. Clinical findings were compared between the two groups.Results: Mean age at diagnosis of uveitis was 9.36 ± 4.24 years and mean duration of follow-up was 48.4 ± 9.2 months. Anterior uveitis was the most common form, accounting for 69.3% (n = 70) of the patients. There were 67 (66.3%) patients in group 1 and 34 (33.7%) patients in group 2. Mean age at diagnosis of uveitis was lower in group 2 (p < 0.05). Although gender, type of inflammation, laterality of eye involvement, and mean age at initiation of biological treatment did not differ between the groups; symptomatic uveitis was more common in group 1, whereas anterior uveitis was also more common in group 2 (p < 0.05). At the time of data collection 16 (15.8%) of the patients had active uveitis. Ocular complications were observed fewer in idiopathic noninfectious uveitis group than noninfectious uveitis associated with an underlying systemic disease (p < 0.05). Biological therapy was administered in 26.8% of the patients in group 1, versus 67.6% of those in group 2. Ocular complications were observed in 22.8% of the patients at presentation or during the follow-up.Conclusion: Herein a large retrospective cohort of noninfectious pediatric uveitis has been described. The findings indicate that noninfectious idiopathic uveitis is characterized by more symptomatic, later onset, and fewer complications than noninfectious uveitis associated with an underlying systemic disease.

Objective: We aimed to investigate the efficacy of mycophenolate mofetil (MMF) for maintaining remission and reduce the number of relapses in childhood steroid-sensitive nephrotic syndrome. The effects of MMF on growth and blood pressure parameters were also evaluated.Material and Methods: This retrospective, single-center observational study included patients with steroid-sensitive nephrotic syndrome who were treated using MMF between 2009 and 2019 in the Department of Pediatric Nephrology in our hospital. Results: Ten patients had steroid-dependent nephrotic syndrome; six patients frequently had relapsing nephrotic syndrome in this study. The mean duration of the disease was 93.3 ± 25.0 months and the mean duration of the MMF onset was 33.9 ± 16.7 months after diagnosis. Ten patients showed a 50% or greater reduction in the relapse rate and the prednisolone treatment was discontinued in eight patients for six months or more. Compared to the previous year, before the start of the MMF treatment, there was a 52.7% reduction in the relapse rate and a 36.6% reduction in the cumulative annual dose of steroid after 12 months of MMF treatment. The height z score and the median office systolic blood pressure standard deviation scores of the patients improved after MMF treatment (respectively p = 0.003, p = 0.01). Conclusion: The findings suggest that MMF may lead to decreased relapse rates and cumulative steroid dose, which has a positive effect on growth and blood pressure parameters in steroid-sensitive nephrotic syndrome., Amaç: Mikofenolat mofetilin çocukluk çağı steroide duyarlı nefrotik sendromda remisyonu sürdürme ve relaps sayısını azaltmadaki etkinliğinin belirlemesi amaçlandı. Ayrıca MMF’in büyüme ve kan basıncı üzerindeki etkileri değerlendirildi.Gereç ve Yöntemler: Bu retrospektif, tek merkezli gözlemsel çalışma, 2009-2019 yılları arasında hastanemiz çocuk nefroloji kliniğinde MMF ile tedavi edilen steroide duyarlı nefrotik sendromlu hastaları içermektedir.Bulgular: Çalışmamızdaki 10 hasta steroide bağımlı nefrotik sendrom, 6 hasta sık relaps nefrotik sendromdu. Ortalama hastalık süresi 93.3 ± 25.0 ay ve tanıdan sonra ortalama MMF başlangıç süresi 33.9 ± 16.7 aydı. On hastanın nüks oranında %50 veya daha fazla azalma görüldü ve prednizolon tedavisi 8 hastada 6 ay veya daha uzun süre kesildi. Bir önceki yıla kıyasla, 12 aylık MMF tedavisinden sonra nüks oranında %52,7 ve yıllık kümülatif steroid dozunda %36.6 azalma oldu. Mikofenolat mofetil tedavisi sonrası hastaların boy z skoru ve ortanca ofis sistolik kan basıncı standart sapma skorları iyileşti (sırasıyla p = 0.003, p = 0.01).Sonuç: Mikofenolat mofetil, steroid duyarlı nefrotik sendromda nüks oranlarını, kümülatif steroid dozunu azaltarak büyüme ve kan basıncı ölçümleri üzerine olumlu etkilere neden olur.

Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by biallelic mutations in the ACP5 gene that encodes tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is extremely pleiotropic and is characterized by neurological impairment and immune dysfunction. This phenotype can mimic systemic lupus erythematosus. Herein, we report a child presented with systemic lupus erythematosus-like symptoms, including multisystem inflammation, autoimmunity, and immunodeficiency, but was subsequently diagnosed as SPENCD.

BACKGROUND Acute tubulointerstitial nephritis (ATIN) is a rare cause of acute kidney injury in children that can lead to chronic kidney disease. The aim of this study was to describe the presenting features, etiology, and clinical characteristics of childhood ATIN, and to evaluate treatment modalities and renal outcomes. METHODS The study included 38 patients who had been diagnosed with ATIN, were younger than 18 years old, and were admitted for at least 6 months of follow up. RESULTS The median age at diagnosis was 13.1 years (range 1.2-16.6 years). The female / male ratio was 1.37. The most common symptoms were abdominal pain (65.7%) and nausea / vomiting (55.2%). Twenty-three of the patients had a history of drug intake (60.5%), and the most active drugs in the etiology were non-steroidal anti-inflammatory drugs (56.5%). Eleven patients were given steroid therapy due to severe kidney involvement and rapid increases in serum creatinine values, and ten of those patients were drug-related ATIN cases. Other patients were given symptomatic treatment. Four patients needed several sessions of dialysis due to the severity of their acute renal failure. The follow-up creatinine and estimated glomerular filtration rate levels were not statistically different between the symptomatic and corticosteroid treated groups (P > 0.05). CONCLUSIONS Although our study was unable to show the beneficial effect of corticosteroid therapy on the extent of renal recovery, the use of steroids may be preferable in severe nephritis because of the rapid recovery of estimated glomerular filtration rate with corticosteroid therapy.

Colchicine is the primary treatment for familial Mediterranean fever (FMF). Several colchicine preparations are currently using available globally. This study aimed to describe the demographic, clinical, and genetic features of FMF patients treated with multiple colchicine preparations.The records of patients diagnosed as FMF and followed-up by our pediatric rheumatology department were retrospectively evaluated. Patients that were treated with multiple colchicine preparations were included. Patient demographic, clinical, and laboratory data were obtained from the patient files and the hospital patient database. The daily colchicine dose and FMF attack frequency before and after switching from domestically produced (DP)-coated colchicine tablets to foreign produced (FP)-compressed colchicine tablets were compared.The study included 35 pediatric FMF patients (22 males and 13 females) with a mean age of 12.85 ± 4.62 years. Mean age at disease onset was 3.66 ± 2.11 years, versus 5.57 ± 4.28 years at diagnosis. The mean attack frequency before and after treatment with FP-compressed colchicine tablets was 9.50 ± 4.46 and 1.85 ± 1.41/year, respectively (The present findings show that pediatric FMF patients with ongoing attacks and elevated acute phase reactants during attack-free periods while treated with DP-coated colchicine tablets might benefit from switching to FP-compressed colchicine tablets before initiating biologic treatment. Long-term controlled studies are warranted, so as to obtain better evidence of the benefits of multiple colchicine preparations in pediatric FMF patients.

ÖZAmaç: Kalıtsal olmayan otoinflamatuvar hastalıklardan biri olarak sınıflandırılan PFAPA (Periodic fever, apthous stomatitis, pharyngitis and cervical adenitis) sendromu; periyodik ateş, farenjit, servikal lenfadenit ve stomatit ile seyretmektedir. PFAPA sendromunun tanısı bir dışlama tanısıdır. Hastalığa tanı koydurucu özgül bir laboratuvar belirteci bulunmamaktadır. Ülkemiz 1/1000 tahmini prevalans ve 1/5 taşıyıcılık oranı ile dünya üzerinde ailesel Akdeniz ateşi yoğunluğunun en fazla olduğu toplumlardan biridir. Bu genetik yatkınlığın çeşitli romatizmal hastalıkların şiddetini arttırdığı iyi bilinmektedir. Bu çalışmada MEFV mutasyonlarının PFAPA sendromlu çocuklarda klinik ve laboratuvar bulguları, hastalık seyri ve şiddeti üzerindeki etkisini araştırmak amaçlanmıştır. Gereç ve Yöntem: Çalışmaya PFAPA sendromu tanısı konulmuş ve MEFV gen analizi gönderilmiş 70 hasta dahil edilmiştir. Hastaların demografik verileri, klinik bulguları, atak sayısı ve şiddeti, atakta laboratuvar değerleri (lökosit sayısı, eritrosit sedimentasyon hızı, C reaktif protein), MEFV gen analiz sonuçları önceden hazırlanmış formlara kaydedilmiştir. MEFV mutasyonu pozitif olan 33 hasta ile MEFV mutasyonu negatif olan 37 hasta demografik veriler, klinik özellikler ve hastalık seyri açısından karşılaştırılmıştır. Bulgular: MEFV mutasyonu taşıyan PFAPA’lı hastalarda atak süresi ve sıklığı mutasyon taşımayan hastalara göre daha fazlaydı (p

Objectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self limited attacks of fever with serositis. The aim of this study was to describe the...

Objectives: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent, self-limited attacks of fever with serositis. Recently, it was shown that FMF patients with early disease onset have more severe disease. The aim of this study was to describe the demographic, clinical and genetic features of FMF patients who had disease onset during the neonatal period. Methods: Medical records of all patients diagnosed as FMF and had been seen in the outpatient clinic of Paediatric Rheumatology department between January 2013 and January 2014 were retrospectively evaluated. Patients with disease onset during the first month of life were included to the study. Results: Among 317 patients; 19 (12 males) were included to the study. Approximately 60% of the patients had family history of FMF. Homozygous p.M694V mutation was detected in 42% of the cases. Thirteen patients present with attacks of fever and remaining had attacks in the form of restlessness, resembling infantile colic starting in the neonatal period. Majority of these patients developed classical abdominal attacks between the ages of 1 and 2.5 years. The diagnosis of FMF was significantly delayed; the median age at onset of therapy was 3.5 years (range 7 months-17 years). Conclusion: Patients with FMF could have complaints even in the neonatal period. Homozygous p.M694V mutation is a prominent mutation in this group of patients. In order to prevent diagnostic delay physicians dealing with these type of patients should be more vigilant.

Familial Mediterranean fever (FMF) is characterized by recurrent, self-limited attacks of fever with serositis involving the peritoneum, pleura and joints. Fatigue is a common problem in many pediatric rheumatic diseases; however, has not been evaluated systematically in FMF patients. Accordingly, the aim of this study was to evaluate fatigue and its possible allied factors in patients with FMF.Patients with FMF, aged between 10 and 21 years, were assessed by completed validated fatigue questionnaire (Checklist Individual Strength-20). As a control group, patients with chronic rheumatic diseases and healthy children without any chronic disease were included.The study group comprised 111 patients with FMF, 54 with other chronic rheumatic diseases and 79 healthy subjects. While the CIS-20 total score and subscale scores (including subjective experience of fatigue) were similar between patients with FMF and those with other chronic rheumatic diseases (p .05); both groups had significantly higher scores when compared with healthy subjects (p .05). FMF patients with musculoskeletal complaints had significantly higher scores of subjective experiences of fatigue when compared to those without those complaints.Fatigue is a common but unrecognized complaint in patients with FMF. Familial Mediterranean fever seems to be a chronic disease with inter attack ongoing complaints.

Lupus anticoagulant hypoprothrombinaemia syndrome (LAC-HPS) is a rare disorder, defined by the presence of an acquired factor II (FII) deficiency and lupus anticoagulant (LAC) (Rapaport et al. 1960...

Objectives: This study aimed to determine the reliability of novel markers of treatment response in children with familial Mediterranean fever receiving canakinumab treatment, as compared to conventional inflammatory indexes Methods: Clinical and laboratory data for 19 colchicine-resistant Familial Mediterranean Fever patients treated with canakinumab were retrospectively reviewed. Patients with systemic diseases other than familial Mediterranean fever and familial Mediterranean fever related complications were excluded from the study. Results: Following canakinumab treatment there was a non-significant decrease in the neutrophil/ lymphocyte ratio (P = 0.523) and a significant decrease in the platelet/lymphocyte ratio (P = 0.003). There wasn no significant difference in mean platelet volume before and after canakinumab treatment (P = 0.762). Conclusions: The present findings indicate that the platelet/lymphocyte ratio could be considered a more reliable marker than the neutrophil/lymphocyte ratio of response to canakinumab therapy in patients with colchicine-resistant familial Mediterranean fever.

PubMedID: 30607566 Objective: Antineutrophil cytoplasmic antibody (ANCA)–associated vasculitides (AAV) are very rare in childhood with an increased risk of morbidity and mortality. We aimed to evaluate renal prognostic factors in childhood AAV from the perspective of ANCA serotype, histopathological classification, and five-factor score (FFS). Methods: Pediatric AAV patients from 11 referral centers in Turkey had been included to the study. The demographics, clinical findings, AAV subtypes, outcomes, and FFS were evaluated retrospectively. Kidney biopsies were classified histopathologically. Results: Totally, 39 patients were enrolled in the study. Among all patients, 74.4% had renal involvement, 56.4% ear-throat-nose involvement, and 51.3% had musculoskeletal involvement. Proteinase 3 (PR3)-ANCA was positive in 48.7%, and myeloperoxidase (MPO)-ANCA was positive in 30.8%. 69.2% of patients had impaired renal function, and 28.2% had progressed to end-stage renal disease (ESRD) during the follow-up. At the time of diagnosis, FFS was ? 2 in 53.8%. The most common histopathologic classifications were as follows: crescentic type in 40.7% and sclerotic type in 25.9%. Gastrointestinal and renal involvement, MPO-ANCA positivity, serum creatinine levels, and impaired renal function during the follow-up were significantly higher in patients with FFS ? 2, compared to patients with FFS < 2. Patients with FFS ? 2 had more common crescentic, mixed and sclerotic histopathologic findings in biopsies. By logistic regression analysis forward method, the strongest single-risk factor among all the parameters was the initial level of creatinine in patients with ESRD, compared to the other patients (p = 0,007). Conclusions: Evaluation of the FFS, ANCA serology, and the creatinine levels may help to predict renal prognosis. © 2019, IPNA.

simsek, dogan/0000-0001-8339-9704; Kargin cakici, Evrim/0000-0002-1697-6206; Ozdel, Semanur/0000-0001-5602-4595 WOS: 000528273300008 PubMed: 32159638 BACKGROUND: Juvenile idiopathic arthritis (JIA) is the commonest chronic rheumatic disease among children. When not treated effectively, JIA can lead to functional disability, due to joint damage, along with long-term morbidities. OBJECTIVES: To describe the use of tocilizumab therapy for 11 patients with polyarticular JIA (pJIA) and systemic JIA (sJIA) who presented inadequate response or were refractory to disease-modifying anti-rheumatic drugs (DMARDs) and/or other biological therapies; and to evaluate its benefits, safety and tolerability. DESIGN AND SETTING: Observational retrospective case series at a tertiary-level training and research hospital. METHODS: We reviewed the medical records of 11 consecutive patients with JIA who received tocilizumab (anti-IL-6) therapy in our pediatric nephrology and rheumatology outpatient clinic. We analyzed their demographic data, clinical and laboratory findings, treatment response and adverse reactions. We determined the efficacy of tocilizumab treatment using the American College of Rheumatology (ACR) pediatric (Pedi) response criteria, including ACR Pedi 30, 50, 70 and 90 scores. We used the Wilcoxon test to compare measurements before and after treatment. RESULTS: Tocilizumab was given to seven patients with sJIA and four with pJIA (one of the pJIA patients was rheumatoid factor-positive). In most patients, we observed improvement of symptoms, absence of articular and extra-articular inflammation and continued inactive disease. ACR Pedi 30, 50 and 70 scores were achieved by 90.9% of the patients. Five patients showed minor side effects, possibly due to use of tocilizumab. CONCLUSIONS: Tocilizumab therapy should be considered for treating patients with diagnoses of pJIA or sJIA who are resistant to non-biological DMARDs and/or other biological therapies.

BACKGROUND We aimed to evaluate children who presented with electrical injury to the emergency department. We tried to reveal the complications of these patients and the measures to be taken in this regard. METHODS Medical records of pediatric patients who were admitted with electrical injury to emergency department between January 2007 and January 2012 were retrospectively reviewed. An information form was completed about demographic data, clinical features, exposure place, electrical current type, clinical course, duration of hospitalization, electrocardiography, echocardiography and other systems findings. RESULTS Children who were the most exposed to electrical injury were children 4 years and under. While low-voltage current exposure was more common in younger ages, high-voltage current exposure was more common in older ages. Most of our patients (%72) were exposed to low voltage. Patients who exposed to high-voltage electricity had significantly higher levels of CPK, CK-MB, LDH, AST, and ALT compared to patients who were exposed to low voltage electricity. None of the patients have died. CONCLUSION Young children are often exposed to electric shock at home. Increasing precautions to be taken at home reduces electrical shock injuries. Children and especially families should be educated in this regard.

Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterised by recurrent, self-limited attacks of fever with serositis. Recently, it was shown that patients with early disease onset during childhood period had more severe disease. The aim of this study was to describe the demographic, clinical and genetic features of FMF patients who had late-onset disease during childhood period and to compare them to those with earlier onset patients. Files of patients who had been seen in our department between January 2013 and January 2014 were retrospectively evaluated. Patients were divided into two groups according to age of disease onset (group I, ≤8 years; group II, >8 years), and clinical findings were compared between the two groups. The study group comprised 317 FMF patients. There were 267 patients in group I and 50 patients in Group II. Median attack frequency was 24/year in group I and 12/year in group II (p

BACKGROUND Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a systemic disorder of unknown etiology characterized by elevated serum IgG4 and tissue infiltration of IgG4-positive plasma cells. The disease was described in the pancreas, aorta, thyroid, salivary glands, periorbital tissues, kidneys, pericardium and lymph nodes. CASE Here in, we report a first pediatric case report of IgG4-related disease who presented with a mass in skeletal muscle i.e., biceps muscle. CONCLUSION To the best of our knowledge, the involvement in skeletal muscle has previously not been reported in children.