RESUMO Objetivo: Avaliar as doenças autoinflamatórias (DAI) de acordo com sexo e idade no momento do diagnóstico e a resposta terapêutica em uma grande população. Métodos: Este é um estudo observacional transversal de um registro latino-americano que usou um sistema de dados coletados entre 2015 e 2018. Quaisquer achados alterados ao longo do acompanhamento foram registrados. Os formulários foram traduzidos para os idiomas português e espanhol, incluindo características demográficas, clínicas, laboratoriais, genéticas e de tratamento. Resultados: Incluímos 152 pacientes, sendo 51,3% do sexo masculino e 75% da raça branca. A média de idade de início da doença foi de 2,1 anos (0–15,6 anos) e a média de idade de diagnóstico 6,9 anos (0–21,9 anos); 111 (73%) eram crianças (0–9 anos) e 41 (27%) adolescentes/adultos jovens (10–21 anos). A síndrome de febre periódica, estomatite aftosa, faringite e adenite (PFAPA) ocorreu em 46/152 (30%), osteomielite não bacteriana crônica (CNO) em 32/152 (21%) e febre familiar do Mediterrâneo (FMF) em 24/152 (15,7%). A PFAPA foi significativamente maior em crianças pequenas (38,7 vs. 7,3%, p<0,001), e a CNO, em adolescentes/adultos jovens (13,5 vs. 41,5%, p<0,001). A frequência do sexo feminino foi significativamente maior na CNO (28,4 vs. 14,1%, p=0,031) e menor na FMF (8,1 vs. 23,1%, p=0,011). Os medicamentos mais utilizados foram glicocorticoides, anti-inflamatórios não esteroidais (AINE) e colchicina. O tratamento com glicocorticoides e colchicina foi usado em todas as DAI com resposta boa a moderada. No entanto, as síndromes periódicas associadas à criopirina (CAPS) pareciam não responder aos glicocorticoides. AINE e metotrexato foram os principais medicamentos utilizados no tratamento da CNO. Conclusões: Diferenças de pacientes com DAI foram observadas na população latino-americana em pacientes agrupados por sexo e idade ao diagnóstico da doença. Objetivo (DAI Métodos latinoamericano latino americano 201 2018 registrados espanhol demográficas clínicas laboratoriais Resultados 15 513 51 3 51,3 75 branca 21 2 1 2, 0–15,6 0156 0 6 (0–15, 69 9 6, 0–21,9 0219 (0–21, 11 73% 73 (73% 0–9 09 (0– 4 27% 27 (27% adolescentesadultos adolescentes adultos 10–21 1021 10 (10–2 anos. . periódica aftosa (PFAPA 46152 46 46/15 30%, 30 30% , (30%) (CNO 32152 32 32/15 21% (21% (FMF 24152 24 24/15 15,7%. 157 15,7% 7 (15,7%) 38,7 387 38 (38, vs 7,3% p<0,001, p0001 p p<0,001 001 p<0,001) 13,5 135 13 5 (13, 415 41,5% p<0,001. 28,4 284 28 (28, 141 14 14,1% p=0,031 p0031 031 8,1 81 8 (8, 231 23 23,1% p=0,011. p0011 p=0,011 011 p=0,011) antiinflamatórios anti inflamatórios (AINE moderada entanto CAPS (CAPS Conclusões latinoamericana americana 20 51, 0–15, 015 (0–15 0–21, 021 (0–21 (73 0– (0 (27 10–2 102 (10– 4615 46/1 (30% 3215 32/1 (21 2415 24/1 15,7 (15,7% 38, (38 7,3 p000 p<0,00 00 13, (13 41,5 28, (28 14,1 p=0,03 p003 03 8, (8 23,1 p001 p=0,01 01 0–15 (0–1 0–21 02 (0–2 (7 ( (2 10– (10 461 46/ (30 321 32/ 241 24/ 15, (15,7 (3 7, p00 p<0,0 (1 41, 14, p=0,0 23, 0–1 0–2 (15, p0 p<0, p=0, (15 p<0 p=0 p< p=

ABSTRACT Objective: To evaluate autoinflammatory diseases (AID) according to age at diagnosis and sex, and response to therapy in a large population. Methods: This is a cross-sectional observational study of a Latin American registry using a designed web system for data storage, collected between 2015 and 2018. Any altered findings during follow-up were recorded. The forms were translated into Portuguese and Spanish, including demographic, clinical, laboratory, genetic and treatment characteristics. Results: We included 152 patients, 51.3% male and 75% Caucasian. The median age at disease onset was 2.1 years (0–15.6 years) and median age at diagnosis 6.9 years (0–21.9 years); 111 (73%) were children (0–9 years old), and 41 (27%) were adolescents and young adults (AYA) (10–21 years old). Periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome (PFAPA) occurred in 46/152 (30%), chronic non-bacterial osteomyelitis (CNO) in 32/152 (21%), and familial Mediterranean fever (FMF) in 24/152 (15.7%). PFAPA was significantly higher in young children than in AYA (38.7% vs. 7.3%, p<0.001), while CNO were lower (13.5% vs. 41.5%, p<0.001). The frequency of females was significantly higher in CNO (28.4% vs. 14.1%, p=0.031) and lower in FMF (8.1% vs. 23.1%, p=0.011). The most used drugs were glucocorticoids, non-steroidal anti-inflammatory drugs (NSAID), and colchicine. Glucocorticoids and colchicine treatment were used in all AID with good to moderate response. However, cryopyrin-associated periodic syndromes (CAPS) seemed unresponsive to glucocorticoids. NSAIDs and methotrexate were the main medications used to treat CNO. Conclusions: Differences among AID patients were observed in the LA population regarding sex and age at disease diagnosis. Objective (AID Methods crosssectional cross sectional storage 201 2018 followup follow up recorded Spanish demographic clinical laboratory characteristics Results 15 513 51 3 51.3 75 Caucasian 21 2 1 2. 0–15.6 0156 0 6 (0–15. 69 9 6. 0–21.9 0219 (0–21. 11 73% 73 (73% 0–9 09 (0– old, old , old) 4 27% 27 (27% (AYA 10–21 1021 10 (10–2 old. . stomatitis pharyngitis (PFAPA 46152 46 46/15 30%, 30 30% (30%) nonbacterial non bacterial (CNO 32152 32 32/15 21%, 21% (21%) (FMF 24152 24 24/15 15.7%. 157 15.7% 7 (15.7%) 38.7% 387 38 (38.7 vs 7.3% p<0.001, p0001 p p<0.001 001 p<0.001) 13.5% 135 13 5 (13.5 415 41.5% p<0.001. 28.4% 284 28 (28.4 141 14 14.1% p=0.031 p0031 031 8.1% 81 8 (8.1 231 23 23.1% p=0.011. p0011 p=0.011 011 p=0.011) glucocorticoids nonsteroidal steroidal antiinflammatory anti inflammatory NSAID, NSAID (NSAID) However cryopyrinassociated cryopyrin associated CAPS (CAPS Conclusions 20 51. 0–15. 015 (0–15 0–21. 021 (0–21 (73 0– (0 (27 10–2 102 (10– 4615 46/1 (30% 3215 32/1 (21% 2415 24/1 15.7 (15.7% 38.7 (38. 7.3 p000 p<0.00 00 13.5 (13. 41.5 28.4 (28. 14.1 p=0.03 p003 03 8.1 (8. 23.1 p001 p=0.01 01 (NSAID 0–15 (0–1 0–21 02 (0–2 (7 ( (2 10– (10 461 46/ (30 321 32/ (21 241 24/ 15. (15.7 38. (38 7. p00 p<0.0 13. (13 41. 28. (28 14. p=0.0 8. (8 23. 0–1 0–2 (1 (3 (15. p0 p<0. p=0. (15 p<0 p=0 p< p=

Abstract Hemophagocytic lymphohistiocytosis (HLH) is a rare genetic hyperinflammatory syndrome that occurs early in life. Macrophage activation syndrome (MAS) usually refers to a secondary form of HLH associated with autoimmunity, although there are other causes of secondary HLH, such as infections and malignancy. In this article, we reviewed the concepts, epidemiology, clinical and laboratory features, diagnosis, differential diagnosis, prognosis, and treatment of HLH and MAS. We also reviewed the presence of MAS in the most common autoimmune diseases that affect children. Both are severe diseases that require prompt diagnosis and treatment to avoid morbidity and mortality. (HLH life (MAS autoimmunity malignancy article concepts epidemiology features prognosis children mortality

ABSTRACT Objective: To evaluate the importance attributed to tonsillitis by guardians and their level of knowledge about the disease, correlating their management with their schooling and socioeconomic profiles. Methods: A quantitative, descriptive and observational cross-sectional study involving students aged 5 to 17 years from state-owned and private schools. A questionnaire was applied on management of tonsillitis and knowledge about rheumatic fever, addressing demographic and socioeconomic data. Results: A total of 323 students were included, predominantly females (61.3%), from state-owned schools (77.1%), with a mean age of 9.7±0.3 years. Among the guardians, 48.6% completed high school. Among the students 75.2% had at least one episode of odynophagia in the previous 12 months. Considering the previous 2 years, 89.8% reported this symptom. There was no collection of bacteriological specimens in 67.8%, and in 83% if taking into account only the last episode, despite the search for medical care in most cases (92.6%). The use of anti-inflammatory drugs was very frequent (43.0% “always” and 42.4% “sometimes”). Among the guardians, 81.7% denied being aware of the relation between rheumatic fever and inappropriate treatment of odynophagia; 85.8% said they wished they had received more information. Conclusion: Although it is quite common in schoolchildren, tonsillitis is neglected by many guardians and health professionals, and the ignorance of its relation with rheumatic fever is practically universal, which may contribute to its high prevalence.

Abstract Background: To date there are no specific classification criteria for childhood-onset systemic lupus erythematosus (cSLE). This study aims to compare the performance among the American College of Rheumatology (ACR) 1997, the Systemic Lupus International Collaborating Clinics criteria (SLICC) and the new European League Against Rheumatism (EULAR)/ACR criteria, in a cSLE cohort. Methods: We conducted a medical chart review study of cSLE cases and controls with defined rheumatic diseases, both ANA positive, to establish each ACR1997, SLICC and EULAR/ACR criterion fulfilled, at first visit and 1-year-follow-up. Results: Study population included 122 cSLE cases and 89 controls. At first visit, SLICC criteria had higher sensitivity than ACR 1997 (89.3% versus 70.5%, p < 0.001), but similar specificity (80.9% versus 83.2%, p = 0.791), however performance was not statistically different at 1-year-follow-up. SLICC better scored in specificity compared to EULAR/ACR score ≥ 10 at first visit (80.9% versus 67.4%, p = 0.008) and at 1-year (76.4% versus 58.4%, p = 0.001), although sensitivities were similar. EULAR/ACR criteria score ≥ 10 exhibited higher sensitivity than ACR 1997 (87.7% versus 70.5%, p < 0.001) at first visit, but comparable at 1-year, whereas specificity was lower at first visit (67.4% versus 83.2%, p = 0.004) and 1-year (58.4% versus 76.4%, p = 0.002). A EULAR/ACR score ≥ 13 against a score ≥ 10, resulted in higher specificity, positive predictive value, and cut-off point accuracy. Compared to SLICC, a EULAR/ACR score ≥ 13 resulted in lower sensitivity at first visit (76.2% versus 89.3%, p < 0.001) and 1-year (91% versus 97.5%, p = 0.008), but similar specificities at both assessments. When compared to ACR 1997, a EULAR/ACR total score ≥ 13, resulted in no differences in sensitivity and specificity at both observation periods. Conclusions: In this cSLE population, SLICC criteria better scored at first visit and 1-year-follow-up. The adoption of a EULAR/ACR total score ≥ 13 in this study, against the initially proposed ≥10 score, was most appropriate to classify cSLE. Further studies are necessary to address if SLICC criteria might allow fulfillment of cSLE classification earlier in disease course and may be more inclusive of cSLE subjects for clinical studies.

Os autores relatam um caso clínico sobre Síndrome SAPHO, na faixa etária pediátrica, com enfoque dermatológico. Essa entidade deve ser considerada, nos pacientes que tenham dor na parede torácica anterior ou outros sintomas musculoesqueléticos, acompanhados por lesões dermatológicas, como pustulose palmoplantar e acne fulminans. As manifestações cutâneas específicas, diagnóstico e o tratamento utilizado serão apresentados

The authors report a case of SAPHO Syndrome, in pediatric age, with a dermatological focus. This entity should be considered in patients who have pain in the anterior chest wall or other musculoskeletal symptoms, accompanied by palmoplantar pustulosis and acne fulminans. The specific cutaneous manifestations, diagnosis and the treatment will be presented

Distúrbios do aparelho respiratório nas doenças reumáticas que acometem a faixa etária pediátrica não são raros e podem apresentar características clínicas diferentes quando comparados ao quadro clínico de adultos. Este artigo de revisão procura mostrar as principais manifestações do aparelho respiratório, com ênfase no acometimento pulmonar, nas principais doenças reumáticas da infância e adolescência

Respiratory tract disorders in the juvenile rheumatic diseases are not infrequent and can have different clinical features when compared with those in the adult diseases. The purpose of this review article is to show the main manifestations of the respiratory tract, with an emphasis on lung involvement, in the most frequent juvenile rheumatic diseases

OBJETIVOS: Descrever uma população de crianças com diagnóstico de doença de Kawasaki (DK) atendida em centros de reumatologia pediátrica do Rio de Janeiro. Analisar o período de atraso no diagnóstico e início do tratamento, devido à dificuldade de distinguir DK de outras doenças febris comuns da infância; e o impacto deste atraso na frequência de sequelas coronarianas. MÉTODOS: Os dados analisados incluíram: nome, sexo, idade, data do inicio dos sintomas e da admissão no serviço especializado, sintomatologia, evolução clínica, uso de Imunoglobulina Endovenosa (IGEV) e complicações coronarianas. RESULTADOS: Dos 125 casos estudados, 63% eram meninos. 40% tinham menos de 2 anos no momento do diagnóstico. O intervalo médio entre o inicio dos sintomas e o diagnóstico de DK foi de 12 dias (duração média da febre = 14 dias). Dos casos estudados, 22,4% receberam o diagnostico de DK antes do atendimento em serviço especializado; nos demais, as hipóteses diagnosticas iniciais incluíam: infecções bacterianas (60%), virais (12%), outras doenças reumatológicas (4%) e reações adversas à vacinação (1,6%). Em 85.6 % dos casos registrou-se o tratamento realizado, sendo administrada IGEV em 46,7%, e a partir do 10º dia em 21,5% dos casos. Dos 20 pacientes apresentando sequelas coronarianas, 9 tiveram diagnóstico tardio, incluindo 3 iniciando tratamento após o 10º dia e 6 sem tratamento. Não encontramos associação significativa entre a frequência de sequelas coronarianas e: sexo; idade; critérios clínicos; tratamento com IGEV antes ou depois do 10º dia de doença. CONCLUSÕES: O diagnóstico de DK pode ser atrasado pela dificuldade em diferenciá-lo de outras doenças febris da infância.

OBJECTIVES: To describe a population of children diagnosed with Kawasaki's disease (KD) in pediatric rheumatology centers of Rio de Janeiro, Brazil, defining the magnitude of the delay period in diagnosing KD and initiating treatment due to confusion with common childhood febrile illnesses and the impact of this delay on the frequency of coronary sequels. METHODS: Data analysis from hospital records summarized in a dedicated form, including name, gender, age, date of first recorded clinical signs, date of admission to the specialty service, information about symptoms, clinical evolution, intravenous immunoglobulin (IVIG) use and coronary sequels. RESULTS: Of 125 patients, 63% were males. 40% were under 2 years at diagnosis. Average lapse between earliest signs and KD diagnosis was 12 days (mean fever duration, 14 d). Only 22.4% had a diagnosis of KD before entering the specialty service. For the remainder, initial hipotheses included: bacterial (60%) and viral infections (12%), rheumatological diseases (4%) and adverse vaccination reactions (1.6%). Hence, prevalent febrile illnesses of childhood were major confounding factors. For records (85.6%) mentioning treatment, 46.7% reported IVIG treatment, beginning after day 10 in 23 cases (21.5%). 20 patients (16%) presented coronary sequels, 9 of which were diagnosed late, including 3 given IVIG after day 10, and 6 given no IVIG. We found no significant association between the frequency of coronary sequels and: a) sex; b) age; c) clinical criteria; d) initiation of IVIG treatment (before or after day 10). CONCLUSIONS: Common febrile illnesses of childhood often confound the diagnosis of KD.

OBJETIVO: Avaliar a freqüência e a gravidade dos efeitos adversos durante a infusão de infliximabe. MATERIAL E MÉTODOS: Avaliação retrospectiva de prontuários de 58 pacientes acompanhados em cinco serviços de reumatologia pediátrica. Todos apresentavam doença refratária ou eram intolerantes ao uso de uma ou mais drogas modificadoras de doença e receberam uma ou mais infusões de infliximabe. A análise estatística foi descritiva, levando-se em conta a freqüência e o tipo dos efeitos adversos, assim como sua relação com o número de infusões, a dose de infliximabe e a indicação. RESULTADOS: A média da idade na época da introdução do infliximabe foi de 12 anos e 9 meses e a média do tempo de evolução da doença foi de 7 anos e 7 meses. A principal indicação da medicação foi artrite idiopática juvenil (43). Dos 58 pacientes avaliados, 25 (43,1%) apresentaram efeitos adversos durante a infusão e em 17 (29,3%), a medicação teve de ser suspensa. As reações que ocorreram foram: dispnéia (dez), náuseas e vômitos (oito), rash cutâneo (sete), choque anafilático (seis), rubor facial (cinco), angioedema (quatro), dor torácica (quatro), urticária e hipertensão, entre outras. A reação anafilática foi mais freqüente entre a quarta e a sexta infusão. CONCLUSÃO: A freqüência e a gravidade dos efeitos adversos ao infliximabe devem ser levadas em conta, não apenas por ocasião da sua indicação, mas principalmente por ocasião da escolha do local para a sua aplicação, que deve contar com estrutura para atendimento de urgência.

OBJECTIVE: To evaluate the frequency and the severity of the adverse reactions during the infusion of infliximab. METHODS: We performed a retrospective chart review of 58 patients, followed up at 5 paediatric rheumatology centers. All patients presented refractory disease or were intolerant to one or more disease modifying drugs and received one or more infliximab infusions. The data analysis was descriptive, considering the frequency and the kind of adverse reactions as well as the number of the infusions, the infliximab dose and the indication. RESULTS: The mean age at the onset of infliximab was 12 years and 9 months and the mean of the disease duration was 7 years and 7 months. The main indication of the drug was juvenile idiopathic arthritis (43). Twenty five out of 58 patients (43.1%) presented adverse reactions during the infusion and 17 (29,3%) had to withdraw the treatment. The reactions were: dyspnea (ten), nausea and vomiting (eight), rash (seven), anaphylaxis (six), flush (five), angioedema (four), chest pain (four) besides urticaria, hypertension, among others. The anaphylaxis was more frequent between the fourth and the sixth infusion. CONCLUSION: The frequency and the severity of adverse reactions to infliximab must be considered not only in relation to its indication, but mainly for the choice of the center to the drug infusion where emergency treatment may be performed.