Search

Background: Juvenile idiopathic arthritis (JIA) is a common chronic rheumatic disease in children, requiring careful management to reduce both short- and long-term morbidity. In this study, our objective was to assess the clinical features of patients diagnosed with JIA who received intra-articular corticosteroid injections (IACI). Methods: In this retrospective study, we evaluated the clinical and laboratory characteristics of 225 JIA patients monitored from January 2012 to October 2023 at a tertiary care center. We focused on patients who underwent intra-articular corticosteroid injections (IACI) as part of their treatment. Triamcinolone hexacetonide (TH) was used due to its demonstrated safety and efficacy. Results: Our analysis revealed that IACI, particularly utilizing TH, was a widely employed and effective adjunct therapy, contributing to rapid symptom relief and local disease control. Patients receiving IACI exhibited earlier symptom onset, younger age at diagnosis, longer follow-up durations, and higher cumulative treatment burden (p < 0.001, p < 0.001, p < 0.01, p < 0.001 respectively). Despite inconclusive acute-phase reactants, a higher frequency of ANA positivity and elevated initial lymphocyte counts were associated with increased IACI use (p < 0.001, p < 0.001 respectively). Importantly, on a joint basis, a high percentage of arthritis remission following IACI underscores its efficacy and favorable safety profile. Conclusions: Notably, the high percentage of arthritis remission achieved with intra-articular corticosteroid injections (IACI) on a joint-specific basis highlights its efficacy and favorable safety profile. A lymphocyte count exceeding 5000/mm3 at the time of diagnosis may serve as an early indicator for considering intra-articular steroid administration. These findings emphasize the need for nuanced and individualized treatment strategies in JIA management to optimize outcomes for affected children. [ABSTRACT FROM AUTHOR]

Familial Mediterranean fever (FMF) is an autoinflammatory disease which may cause endothelial dysfunction and arterial stiffness. In this study, we evaluated patients with FMF in terms of arterial stiffness indicators and investigated whether there was any difference according to colchicine response. This is a single-center, prospective, case-control study conducted on pediatric patients with FMF. Patients were categorized into 2 groups: patients on colchicine monotherapy (group 1) and patients who used anti-interleukin-1 (IL-1) plus colchicine (group 2). Patient age, mutations in the MEFV gene, overall duration of treatments, and general characteristics of symptoms were recorded. Laboratory values in an attack-free period were noted. Pulse wave velocity (PWV) was measured in all patients. Erythrocyte sedimentation rate and C-reactive protein, nocturnal hypertension, and PWV were higher in group 2. Arterial stiffness develops due to subclinical inflammation in patients with FMF. It is more pronounced in colchicine-resistant patients. [ABSTRACT FROM AUTHOR]

The article discusses the similarities and differences between bone marrow edema syndrome (BMES) and chronic non-bacterial osteomyelitis (CNO), which can lead to misdiagnosis. BMES is a rare disease characterized by extremity pain and interstitial edema in the bone marrow, while CNO primarily affects children and adolescents and is an autoinflammatory bone disease. The article presents a case study of a pediatric patient with BMES who initially presented with foot pain and symmetrical bone marrow edema, which could have been misdiagnosed as CNO. The article emphasizes the importance of differentiating between these conditions for effective treatment planning. [Extracted from the article]

Familial Mediterranean fever (FMF) is the most common inherited autoinflammatory disorder, characterized by recurrent and self‐limiting episodes of fever and serosal inflammation. Recurrent serositis may rarely lead to the formation of adhesions in the peritoneum, which may result in mechanical bowel obstruction. The symptoms, such as abdominal pain and vomiting, may mimic typical FMF attacks, resulting in misdiagnosis and severe morbidity, including strangulation and intestinal necrosis. Physicians are generally aware of other complications associated with FMF but reports on peritoneal adhesions and intestinal obstruction in English‐language literature are inadequate to increase clinicians' awareness. Therefore, it is crucial to meticulously evaluate FMF patients presenting with abdominal pain and ileus because these symptoms could be due to adhesive small‐bowel obstruction (ASBO). Furthermore, patients presenting with ASBO without a history of abdominal surgery should also be thoroughly evaluated, especially as it could be an initial presentation for an autoinflammatory disease. Herein, we present a pediatric case of FMF with the M694V homozygous mutation, complicated by ASBO while under colchicine treatment. Additionally, we provide a comprehensive review of the available literature on ASBO in FMF. [ABSTRACT FROM AUTHOR]

Amaç: Mevalonat kinaz eksikliği hastalığı, mevalonat kinaz enziminin eksikliğine bağlı gelişen, otozomal resesif geçişli otoenflamatuvar bir hastalıktır. Biz burada, literatürde ilk kez; tekrarlayan ateşli ishal, karın ağrısı atakları ile seyreden, persistan poliartriti ve enflamatuvar barsak hastalığı benzeri bulguları gelişen, MVK gen analizi negatif olmasına karşın ilk kez fosfomevalonat kinaz enzim geninde bileşik heterozigot mutasyon saptanan olgumuzu sunuyoruz. Olgu: İlk kez 6 yaşında uzamış ateş ile izlenen hastanın sol diz artriti gelişmiş, tedaviye yeterli yanıt alınamadığı için çocuk romatoloji bölümümüze danışılan hastanın öyküsünde, 4 yaşından beri, yüksek ateşin eşlik ettiği ishal, karın ağrısı ve artrit atakları olduğu öğrenildi, Ailevi Akdeniz ateşi (AAA) ön tanısı ile kolşisin tedavisi başlandı. MEFV gen analizinde mutasyon saptanmayan hastanın kolşisin tedavisi altında ataklarının kısmen hafiflemesi, akut faz reaktanlarında göreceli düşüş saptanması üzerine tedaviye devam edildi. Tedavisinin 4. yılında oligoartiküler jüvenil idiopatik artrit ön tanısı ile NSAİ, steroid ve metotreksat tedavileri başlandı. İzlemde 8 yıl boyunca anti-TNF,anti-IL-6, anti-IL-1, steroid, metotreksat, azatiyoprin dahil farklı immünosüpresiflere yanıt vermeyen hastanın izlemi sırasında bakılan IgD düzeyi yüksek, idrarda artmış mevalonik asit saptanmıştır. MVK gen analizi negatif saptanan hastanın tüm ekson dizileme tetkikinde fosfomevalonat kinaz enziminde birleşik heterozigot mutasyon saptandı. Bulgular: Olgumuz PMVK birleşik heterozigot gen mutasyonu sonucu gelişen fosfomevalonat kinaz enzim eksikliğine bağlı ortaya çıkan mevalonik asidüri-HIDS klinik spektrumunda yer alan literatürdeki ilk olgu olup, yeni hastalık adayıdır. Patojenik varyantlar, MK'nın katlanmasını ve stabilitesini, dolayısıyla enzimatik aktivitesini engeller, bu da mevalonik asit birikimine, kusurlu prenilasyona neden olur (Şekil 1). Tanımlanan fosfomevalonat kinaz eksikliğinin, MVK eksikliği kliniğine benzeyen ve ayrılan özellikleri bir arada bulunduran hastamızın klinik tablosuna sebep olduğunu düşünmekteyiz. Fonksiyonel çalışmalar sonrasında PMVK eksikliğinin kesin olarak patogenezde rol aldığı gösterilirse hedefe yönelik tedavi geliştirilmeye de aday bir hastadır. Sonuç: Sonuç olarak, bulgular MKH açısından şüphe yarattığında, MVK geninde mutasyon gösterilemese de tüm mevalonat yolağı enzimlerinin çalışılması önerilmekte olup, PMVK gen mutasyonu gibi bu yolakta tanımlanmamış hastalık yapıcı genler olabileceği akılda tutulmalıdır. [ABSTRACT FROM AUTHOR]

Objective: The exact effects of MEFV variants on inflammation are still under investigation, and reports on variants of unknown significance, particularly the E148Q variant, have been conflicting. Therefore, this study aims to investigate patients exhibiting E148Q heterozygosity, focusing on diagnoses and disease courses to assist physicians in interpreting the variant., Methods: Data of pediatric patients presenting to the Pediatric Rheumatology clinic between November 2016 and September 2023, exhibiting only E148Q heterozygosity in MEFV gene analysis, were extracted. Patients who were lost before 9 months of follow-up have been excluded to ensure the completion of initial diagnostic tests and evaluations., Results: Among the 119 patients with E148Q variant, the diagnoses were as follows: healthy, 51.3%; IgA vasculitis, 10.1%; Familial Mediterranean Fever (FMF), 7.6%; Periodic fever, Aphtous stomatitis, Pharyngitis, Adenitis (PFAPA), 6.7%; and other diagnoses, 19.3%. IgA vasculitis patients experienced articular, gastrointestinal, and renal involvement at rates of 91.7%, 58.3%, and 16.7%, respectively. Complete response, partial response, and no response to colchicine were 37.5%, 12.5%, and 50%, respectively, in PFAPA patients. All FMF patients responded to colchicine treatment resulting in reduced mean FMF episode counts in 6 months from 3.22 ± 0.92 to 0.56 ± 0.52., Conclusions: The E148Q variant may amplify inflammation and modify disease courses. Patients with the E148Q variant experiencing typical FMF episodes should receive colchicine, but clinicians should exercise caution regarding alternative diagnoses. Additionally, the E148Q variant may increase acute phase reactants and disease severity in IgA vasculitis. However, to reach definitive conclusions on its treatment-modifying role in PFAPA, universal diagnosis and treatment response criteria should be adopted., Competing Interests: Conflicts of interest: No financial or nonfinancial benefits have been received or will be received from any party related directly or indirectly to the subject of this article., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: Biologic therapy has changed the prognosis of patients with rheumatologic disease. Despite all benefits of the biological agents, adverse events may occur due to their long-term use. The aim of this study is to analyze the adverse events observed in pediatric patients who received biological treatment., Materials and Methods: This retrospective observational cohort study was conducted between January 2010 and January 2022. File records of 139 patients used biological agents for rheumatologic diseases in a pediatric rheumatology clinic were evaluated. Diagnosis, received treatment, the rationale for stopping treatment, requirement of tuberculosis prophylaxis, presence of an adverse event, and results were recorded., Results: The most used biological therapy was etanercept (41.7%). Anakinra, adalimumab, canakinumab were used in 30.9%, 27.3%, 23.7% of patients, and the others in less than 10%. Totally 491 adverse events (97.9/100 patient-years) were encountered during the duration of biological treatment. The most often adverse event was recurrent upper respiratory tract infection in the patients (31.9/100 patient-years). Elevated aminotransferase levels (10.4/100 patient-years), abdominal pain (7/100 patient-years), and headache (5.2/100 patient-years) were among the other common side effects. Isoniazid (INH) prophylaxis was needed before biological treatment in 20.9% of the patients. Tuberculosis developed in none of the patients followed-up for latent tuberculosis, however, it developed in a patient while receiving etanercept due to noncompliance with his scheduled outpatient visits during etanercept treatment., Conclusion: The most commonly used biological treatments were TNFi and IL-antagonists, and the majority of side effects were infections and laboratory abnormalities. Although the rate of serious adverse events is quite low, close follow-up of patients receiving biological therapy is very important.