RESUMO
AIM: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disease characterised by recurrent episodes of fever and polyserositis. Sacroiliac joint involvement is rare in FMF patients. The purpose of this study was to evaluate the demographic, clinical, laboratory and imaging findings of patients with FMF who developed sacroiliitis. METHODS: The files of paediatric patients aged 0-18 years who were followed up with a diagnosis of FMF were retrospectively reviewed. FMF patients with evidence of sacroiliitis on magnetic resonance imaging (MRI) were included in the study. RESULTS: Among 1062 FMF patients, 22 (12 males; median age 8.5) (2.1%) of them were found to have sacroiliitis. FMF was diagnosed before sacroiliitis in nine (40.9%) patients and after in 13 (59.1%) patients. The most common symptom in patients with sacroiliitis was low back pain (n = 21, 95.5%). In MEFV gene analysis, M694V was found in 16 (72.7%) patients and was the most common mutation. MRI showed evidence of sacroiliitis in all patients. All patients were using colchicine. Patients with FMF-associated sacroiliitis, remission was achieved with non-steroidal anti-inflammatory drugs in 12 (54.5%), conventional disease-modifying antirheumatic drugs in six (27.3%) and tumour necrosis factor inhibitor treatment in four (31.8%). Four (31.8%) patients experienced sacroiliitis when colchicine incompatible and four (31.8%) patients experienced sacroiliitis while using biologic agents for colchicine-resistant FMF. CONCLUSIONS: FMF-associated sacroiliitis should be considered especially in patients with M694V mutation if they have symptoms such as low back pain. Colchicine-resistant FMF patients should be evaluated for sacroiliitis symptoms at each visit.
RESUMO
BACKGROUND-AIM: To evaluate the effect of vitamin D supplementation on the frequency and duration of attacks in patients of PFAPA syndrome with low vitamin D levels. METHODS: This retrospective study comprised PFAPA patients with vitamin D deficiency/insufficiency between 2018 and 2023. The frequency and duration of PFAPA attacks before and after vitamin D supplementation were noted. RESULTS: Seventy-one patients were included. Of the 71 patients, 24 (33.8%) had vitamin D insufficiency, and 47 (66.2%) had vitamin D deficiency. In patients with vitamin D insufficiency, mean attack frequency and mean attack duration before vitamin D supplementation were 4.3 ± 1.9/year and 2.2 ± 1.6 days, respectively, while mean attack frequency and mean attack duration after vitamin D supplementation were 3.5 ± 2.7/year per year and 1.3 ± 0.9 days respectively (p = 0.2, p = 0.2, respectively). In patients with vitamin D deficiency, mean attack frequency and mean attack duration before vitamin D supplementation were 7.4 ± 2.1/year and 2.2 ± 1.6 days, respectively, while mean attack frequency and mean attack duration after vitamin D supplementation were 3.3 ± 2.4/year and 1.3 ± 0.9 days respectively (p < 0.01, p = 0.04, respectively). When the vitamin D level and the frequency of attacks were compared, the cut-off value of vitamin D was found to be 29.7 nmol/L. CONCLUSIONS: In PFAPA patients with low vitamin D levels, the frequency and duration of PFAPA attacks were reduced with vitamin D supplementation. Especially at vitamin D level cut-off > 29.7 nmol/L, the frequency of attacks reduced significantly.
Assuntos
Linfadenopatia , Faringite , Estomatite Aftosa , Deficiência de Vitamina D , Humanos , Estudos Retrospectivos , Vitamina D/uso terapêutico , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Estomatite Aftosa/complicações , Estomatite Aftosa/tratamento farmacológico , Síndrome , Suplementos NutricionaisRESUMO
OBJECTIVE: The aim of this study is to evaluate the clinical, laboratory, and radiological findings and prognosis of patients with adenosine deaminase 2 deficiency (DADA2) and to highlight the conditions that DADA2 should be considered in the differential diagnosis in patients with neurological findings. METHODS: A case series of six DADA2 patients was presented in this retrospective, descriptive study. Clinical and laboratory data, treatment protocols, and prognosis of the patients were recorded. A diagnosis of DADA2 was established by ADA2 enzyme activity assay and/or ADA2 gene sequencing. RESULTS: Six patients with DADA2 were included in the study. The median age at symptom onset was 6.5 years (range 3.5-13.5 years). The median time to diagnosis from the initial presentation was 9 (3-72) months. Consanguinity was present in the families of 4 cases. The skin, nervous system, and musculoskeletal system were the most commonly involved systems. Vasculitis mimicking polyarteritis nodosa (PAN) was the predominant phenotype (n=4) in our case series. Four patients with PAN-like features had neurological involvement. Ischemic strokes were found in 3 patients, cranial nerve palsy in 2 patients, and seizures in 2 patients. The CECR1 gene was analyzed in all patients. We analyzed plasma ADA2 enzyme activity only in one patient. Anti-tumor necrosis factor (TNF)-α therapy was initiated. Inflammation was suppressed and remission was achieved in all patients. CONCLUSION: DADA2 should be considered in patients with PAN-like disease, a history of familial PAN/vasculitis, early-onset strokes/neurological involvement with systemic inflammation. Furthermore, anti-TNF-α therapy appears to be beneficial for the treatment of DADA2.
RESUMO
OBJECTIVE: The purpose of this study is to investigate the causes and outcomes of switching biological agents in juvenile idiopathic arthritis (JIA) patients using biological agents and compare the characteristics of patients whose biological agents are switched and those whose are not. METHODS: This medical records review study was conducted with 128 patients who were diagnosed with JIA at our clinic between January 2009 and January 2022 and were receiving biologic agents. Factors affecting the biologic agent switching were investigated. RESULTS: The JIA subtype with the most frequent switching in biological agents was systemic JIA (n = 13, 40.6%). Systemic JIA was followed by rheumatoid factor-negative polyarticular JIA and persistent oligoarticular JIA with 5 patients (15.6%), extended oligoarticular JIA and enthesitis-related JIA with 3 patients (9.3%), rheumatoid factor-positive polyarticular JIA with 2 patients (6.2%), and undifferentiated JIA with 1 patient (3.1%). Among the patients, 32 (25%) patients had their biological agent switched once, and 5 (3.9%) had theirs switched twice. The most frequently used biological agent was etanercept (n = 76, 59.3%), whereas the most frequently observed cases of biological agent switching were from an anti-TNF agent to another anti-TNF agent (40.6%). The reason for switching was unresponsiveness to the agent in 22 patients (68.8%), adverse effects in 6 patients (18.7%), drug intolerance in 1 patient (3.1%), and other reasons in 3 patients (9.3%). CONCLUSIONS: The most frequently used biological agent was etanercept; the most frequent cases of biological agents switching were from an anti-TNF agent to another anti-TNF agent.
Assuntos
Antirreumáticos , Artrite Juvenil , Humanos , Artrite Juvenil/diagnóstico , Artrite Juvenil/tratamento farmacológico , Etanercepte/efeitos adversos , Fatores Biológicos/efeitos adversos , Antirreumáticos/efeitos adversos , Fator Reumatoide , Inibidores do Fator de Necrose Tumoral/uso terapêuticoRESUMO
To evaluate the general characteristics of pediatric Behçet's disease (BD) patients with thrombus and to present the clinical features, treatment responses and prognosis of patients with intracardiac thrombus. The clinical characteristics and outcomes of 15 patients with thrombus among 85 pediatric BD patients followed in the Department of Pediatric Rheumatology were evaluated retrospectively. Of the 15 BD patients with thrombus, 12 (80%) were male, 3 (20%) were female. The mean age at diagnosis was 12.9 ± 1.1 years. Thrombus was present at the time of diagnosis in 12 patients (80%), while thrombus developed in three patients within the first three months after diagnosis. The most common site of thrombus was the central nervous system (n = 9, 60%), followed by deep vein thrombus (n = 6, 40%) and pulmonary artery thrombus (n = 4, 26.6%). Three male patients (20%) developed intracardiac thrombus. The overall intracardiac thrombus rate in the 85 patients was 3.5%. Two of the three patients had thrombus in the right, and one had thrombus in the left heart cavity. In addition to steroids, 2 of the 3 patients received cyclophosphamide, while the patient with thrombus localized in the left heart cavity was given infliximab. In the follow-up, the two patients with thrombus in the right heart cavity were switched to infliximab because of resistance to cyclophosphamide. Complete resolution was observed in 2 of the 3 patients on infliximab; a significant reduction in the thrombus of the other patient was achieved. Intracardiac thrombus is a rare presentation of cardiac involvement in BD. It is usually observed in males and in the right heart. Although steroids and immunosuppressive agents such as cyclophosphamide are recommended as first-line treatment, favorable outcomes can be achieved with anti-TNFs in resistant cases.
Assuntos
Síndrome de Behçet , Artéria Pulmonar , Trombose , Síndrome de Behçet/complicações , Síndrome de Behçet/tratamento farmacológico , Humanos , Masculino , Feminino , Criança , Adolescente , Trombose/diagnóstico , Trombose/etiologia , Estudos Retrospectivos , Artéria Pulmonar/diagnóstico por imagem , Angiografia por Tomografia Computadorizada/métodos , Esteroides/uso terapêutico , Ciclofosfamida/uso terapêutico , Infliximab/uso terapêutico , Imunossupressores/uso terapêutico , Resultado do TratamentoRESUMO
AIM: To identify the risk factors associated with intussusception in children with immunoglobulin A vasculitis (IgAV)-gastrointestinal (GI) tract involvement and to evaluate the outcomes of medical treatment and surgical intervention and the course of patients with intussusception. METHODS: This retrospective study was conducted in 157 patients under 18 years of age who were followed up with the diagnosis of IgAV-GI tract involvement between January 2015 and September 2022. The characteristics of the patients who developed intussusception were evaluated in detail. RESULTS: One hundred and fifty-seven patients with GI tract involvement were included in the study. The mean age of patients with IgAV-GI tract involvement was 8.7 ± 3.7 years. The female-to-male ratio was 1:1.5. Intussusception was detected in 14 patients (8.9%). Two patients (14.3%) underwent surgery, and the remaining 12 patients (85.7%) had their medical therapy intensified. Patients with GI tract involvement were divided into two groups as with (n = 14) and without (n = 143) intussusception. There was a statistically significant difference between the groups in the time from the onset of the first symptom of IgAV to the onset of steroids (P = 0.001). There were no statistically significant differences between the groups in age at onset of IgAV, gender distribution, erythrocyte sedimentation rate and C-reactive protein levels. CONCLUSIONS: The time from the onset of the first symptom of IgAV to the start of steroids is a risk factor for the development of intussusception in patients with IgAV-GI tract involvement. In these patients, medical treatment usually reduces intussusception without the need for surgical intervention.
Assuntos
Vasculite por IgA , Intussuscepção , Criança , Humanos , Masculino , Feminino , Adolescente , Pré-Escolar , Estudos Retrospectivos , Intussuscepção/etiologia , Intussuscepção/terapia , Imunoglobulina A , Vasculite por IgA/complicações , Vasculite por IgA/diagnóstico , Fatores de RiscoRESUMO
BACKGROUND: Chronic non-bacterial osteomyelitis is a chronic sterile inflammatory bone condition. We aimed to describe patients' clinical and radiographic findings and to evaluate their response to therapy and their quality of life. METHODS: This cross-sectional study included 18 patients from a single center in Turkey whose clinical, radiological features, and outcomes were reviewed retrospectively. The quality of the patients' lives after treatment was compared with healthy controls using the Pediatric Quality of Life Inventory 4.0. RESULTS: The median age of disease onset was 12 years (IQR 10-14 years) and 11 (61.1%) patients were male. The median follow-up duration was 15 months (IQR 12-22 months). The persistent form of chronic non-bacterial osteomyelitis was the most common pattern in 15 (83.3%) patients and a recurrent pattern was defined in three (16.7%) patients. The lesions were multifocal in all patients and 15 (83.3%) patients had symmetric distribution in whole-body magnetic resonance imaging. The most common sites of arthritis were the knee and sacroiliac joints. Methotrexate was used in 16 (88.9%) patients as first-line therapy. However, some patients were unresponsive to the first-line therapy and needed tumor necrosis factor-α inhibitors (55.6%) and bisphosphonates (16.7%). We observed remission in only four (22.2%) patients, and three (16.7%) patients were unresponsive. The patients had a significantly poorer quality of life than controls (P = 0.005). CONCLUSIONS: Chronic non-bacterial osteomyelitis is an insidious disease that requires detailed analysis for diagnosis and whole-body magnetic resonance imaging is an effective tool for its diagnosis. Despite the advanced treatment, patients with chronic non-bacterial osteomyelitis have a poor quality of life.
Assuntos
Doença Enxerto-Hospedeiro , Osteomielite , Criança , Humanos , Masculino , Adolescente , Feminino , Qualidade de Vida , Imagem Corporal Total , Osteomielite/diagnóstico , Osteomielite/tratamento farmacológico , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Estudos Transversais , Doença CrônicaRESUMO
OBJECTIVES: The aims of this study were to describe the clinical features, comorbidities and outcome of systemic childhood polyarteritis nodosa (PAN) and to evaluate PAN-like diseases in differential diagnosis. METHODS: The study group consisted of patients who were diagnosed as PAN in a referral center in Turkey. The files of all patients were reviewed retrospectively. Disease activity was evaluated with pediatric vasculitis activity score (PVAS). RESULTS: A total of 19 (13 boys/six girls) patients were enrolled in the study. The mean age of patients was 10.37 ± 3.6 years. The mean duration of follow-up was 5.73 ± 3.74 years. Eight patients (42.1%) were also diagnosed with familial Mediterranean fever (FMF). The cutaneous involvement was higher in patients with PAN than those with FMF-associated PAN (p = .03). The median (min-max) PVAS at diagnosis was 5 (3-7). There was no correlation between PVAS scores at the time of diagnosis and age, clinical findings and relapse. CECR1 mutation was detected in one patient leading to deficiency of adenosine deaminase 2. CONCLUSION: The clinical presentation is variable in children with PAN. PAN-like diseases characterized by necrotizing vasculitis should be considered. The possibility of FMF should be kept in mind if inflammation cannot be controlled.
Assuntos
Poliarterite Nodosa , Adenosina Desaminase , Adolescente , Criança , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intercelular , Masculino , Poliarterite Nodosa/diagnóstico , Encaminhamento e Consulta , Estudos RetrospectivosRESUMO
Background: Turkey is the leading country among those that accept Syrian refugees. This study aimed to determine the density of Syrian refugees who received inpatient treatment at Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital between January 2016 and August 2017. Methods: Syrian refugees' gender, age, place of birth, duration of hospitalization, admission diagnosis and services required as an inpatient were recorded from the registration system. Admission diagnoses were grouped according to the 'International Statistical Classification of Diseases and Related Health Problems'. Results: A total of 623 Syrian patients were included in this research. The median age of inpatients was 25.1 months; 58% (362/623) were male and 41% (257/623) were born in Turkey. The mean duration of hospitalization was 3 d. The highest number of admissions was observed in January. Pediatric emergency (17.7%) and pediatric surgery (12%) departments were the services with the highest number of admissions in this hospital. The most common admission reasons were found to be respiratory tract diseases, acute gastroenteritis and burns. Conclusions: Syrian refugees received inpatient treatment in services with different diagnoses. Preventive health measures targeting Syrian refugees may provide treatment at an earlier stage and reduce the rate of hospitalization.