RESUMO
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.
Assuntos
Doenças Autoimunes , Linfo-Histiocitose Hemofagocítica , Síndrome de Ativação Macrofágica , Criança , Humanos , Síndrome de Ativação Macrofágica/diagnóstico , Síndrome de Ativação Macrofágica/etiologia , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/complicações , Doenças Autoimunes/complicações , Diagnóstico DiferencialRESUMO
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.
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.
RESUMO
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.
RESUMO
BACKGROUND: Multisystem Inflammatory Syndrome in Children (MIS-C) is a life-threatening complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, which manifests as a hyper inflammatory process with multiorgan involvement in predominantly healthy children in the weeks following mild or asymptomatic coronavirus disease 2019 (COVID-19). However, host monogenic predisposing factors to MIS-C remain elusive. METHODS: Herein, we used whole exome sequencing (WES) on 16 MIS-C Brazilian patients to identify single nucleotide/InDels variants as predisposition factors associated with MIS-C. RESULTS: We identified ten very rare variants in eight genes (FREM1, MPO, POLG, C6, C9, ABCA4, ABCC6, and BSCL2) as the most promising candidates to be related to a higher risk of MIS-C development. These variants may propitiate a less effective immune response to infection or trigger the inflammatory response or yet a delayed hyperimmune response to SARS-CoV-2. Protein-Protein Interactions (PPIs) among the products of the mutated genes revealed an integrated network, enriched for immune and inflammatory response mechanisms with some of the direct partners representing gene products previously associated with MIS-C and Kawasaki disease (KD). In addition, the PPIs direct partners are also enriched for COVID-19-related gene sets. HLA alleles prediction from WES data allowed the identification of at least one risk allele in 100% of the MIS-C patients. CONCLUSIONS: This study is the first to explore host MIS-C-associated variants in a Latin American admixed population. Besides expanding the spectrum of MIS-C-associated variants, our findings highlight the relevance of using WES for characterising the genetic interindividual variability associated with COVID-19 complications and ratify the presence of overlapping/convergent mechanisms among MIS-C, KD and COVID-19, crucial for future therapeutic management.
Assuntos
COVID-19 , SARS-CoV-2 , Criança , Humanos , COVID-19/complicações , COVID-19/genética , Predisposição Genética para Doença , Síndrome de Resposta Inflamatória Sistêmica/genética , Transportadores de Cassetes de Ligação de ATPRESUMO
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.
Assuntos
Estudantes , Tonsilite , Adolescente , Brasil/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Masculino , Instituições Acadêmicas , Tonsilite/epidemiologiaRESUMO
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.
Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Estudantes , Tonsilite/epidemiologia , Instituições Acadêmicas , Brasil/epidemiologia , Estudos TransversaisRESUMO
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.
Assuntos
Lúpus Eritematoso Sistêmico/classificação , Adolescente , Idade de Início , Anticorpos Antinucleares/análise , Estudos de Casos e Controles , Criança , Pré-Escolar , Europa (Continente) , Feminino , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Masculino , Reumatologia , Sensibilidade e Especificidade , Estados UnidosRESUMO
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.
Assuntos
Animais , Humanos , Encéfalo/metabolismo , Preparações Farmacêuticas/metabolismo , Barreira Hematoencefálica/metabolismo , Distribuição Tecidual/fisiologia , Modelos Teóricos , Aracnoide-Máter/efeitos dos fármacos , Aracnoide-Máter/metabolismo , Transporte Biológico/efeitos dos fármacos , Transporte Biológico/fisiologia , Encéfalo/efeitos dos fármacos , Preparações Farmacêuticas/administração & dosagem , Barreira Hematoencefálica/efeitos dos fármacos , Distribuição Tecidual/efeitos dos fármacos , Líquido Extracelular/efeitos dos fármacos , Líquido Extracelular/metabolismoRESUMO
BACKGROUND: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications. HRQOL scale developed for pediatric SLE will likely be applicable to children with systemic inflammatory diseases. FINDINGS: We adapted Simple Measure of Impact of Lupus Erythematosus in Youngsters (SMILEY©) to Simple Measure of Impact of Illness in Youngsters (SMILY©-Illness) and had it reviewed by pediatric rheumatologists for its appropriateness and cultural suitability. We tested SMILY©-Illness in patients with inflammatory rheumatic diseases and then translated it into 28 languages. Nineteen children (79% female, n=15) and 17 parents participated. The mean age was 12±4 years, with median disease duration of 21 months (1-172 months). We translated SMILY©-Illness into the following 28 languages: Danish, Dutch, French (France), English (UK), German (Germany), German (Austria), German (Switzerland), Hebrew, Italian, Portuguese (Brazil), Slovene, Spanish (USA and Puerto Rico), Spanish (Spain), Spanish (Argentina), Spanish (Mexico), Spanish (Venezuela), Turkish, Afrikaans, Arabic (Saudi Arabia), Arabic (Egypt), Czech, Greek, Hindi, Hungarian, Japanese, Romanian, Serbian and Xhosa. CONCLUSION: SMILY©-Illness is a brief, easy to administer and score HRQOL scale for children with systemic rheumatic diseases. It is suitable for use across different age groups and literacy levels. SMILY©-Illness with its available translations may be used as useful adjuncts to clinical practice and research.
Assuntos
Cooperação Internacional , Idioma , Qualidade de Vida/psicologia , Projetos de Pesquisa , Doenças Reumáticas/psicologia , Tradução , Adolescente , Antirreumáticos/uso terapêutico , Criança , Pré-Escolar , Estudos de Viabilidade , Feminino , Humanos , Imunossupressores/uso terapêutico , Masculino , Psicometria , Doenças Reumáticas/tratamento farmacológico , Inquéritos e Questionários , Resultado do TratamentoRESUMO
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.
Assuntos
Síndrome de Hiperostose Adquirida/patologia , Síndrome de Hiperostose Adquirida/terapia , Criança , Doença Crônica , Diagnóstico Diferencial , Humanos , Lactente , MasculinoRESUMO
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.
Assuntos
Criança , Humanos , Lactente , Masculino , Síndrome de Hiperostose Adquirida/patologia , Síndrome de Hiperostose Adquirida/terapia , Doença Crônica , Diagnóstico DiferencialRESUMO
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.
Assuntos
Doenças Reumáticas , Humanos , Doenças Reumáticas/complicações , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/tratamento farmacológicoRESUMO
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.
Assuntos
Humanos , Doenças Reumáticas , Doenças Reumáticas/complicações , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/tratamento farmacológicoRESUMO
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.
Assuntos
Síndrome de Linfonodos Mucocutâneos , Brasil , Criança , Pré-Escolar , Diagnóstico Tardio , Feminino , Instalações de Saúde , Humanos , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Estudos Retrospectivos , Saúde da População UrbanaRESUMO
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 por cento eram meninos. 40 por cento 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 por cento receberam o diagnostico de DK antes do atendimento em serviço especializado; nos demais, as hipóteses diagnosticas iniciais incluíam: infecções bacterianas (60 por cento), virais (12 por cento), outras doenças reumatológicas (4 por cento) e reações adversas à vacinação (1,6 por cento). Em 85.6 por cento dos casos registrou-se o tratamento realizado, sendo administrada IGEV em 46,7 por cento, e a partir do 10º dia em 21,5 por cento 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 percent were males. 40 percent 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 percent had a diagnosis of KD before entering the specialty service. For the remainder, initial hipotheses included: bacterial (60 percent) and viral infections (12 percent), rheumatological diseases (4 percent) and adverse vaccination reactions (1.6 percent). Hence, prevalent febrile illnesses of childhood were major confounding factors. For records (85.6 percent) mentioning treatment, 46.7 percent reported IVIG treatment, beginning after day 10 in 23 cases (21.5 percent). 20 patients (16 percent) 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.
Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos , Brasil , Diagnóstico Tardio , Instalações de Saúde , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Estudos Retrospectivos , Saúde da População UrbanaRESUMO
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 por cento) apresentaram efeitos adversos durante a infusão e em 17 (29,3 por cento), 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 percent) presented adverse reactions during the infusion and 17 (29,3 percent) 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.
Assuntos
Humanos , Criança , Doenças Autoimunes , Padrões de Prática Médica , Fator de Necrose Tumoral alfaRESUMO
INTRODUCTION: Henoch-Schonlein purpura is one of the most common vasculitis in children. Some microorganisms have being suggested as possible etiological agents as group A streptococcus. CASE REPORT: R.L.B 7 years old presented with purpuric lesions in lower extremities and buttocks following fever and polyarthritis. After 7 days he arrived in our hospital showing pharyngitis new systolic murmur migratory polyarthritis and palpable purpura. His urinalysis had raised proteins and white cell count hemogram was normal sedimentation rate and streptococcal antibody titer were elevated. Electrocardiography showed a prolonged PR interval and echocardiogram confirmed moderate to severe mitral valve regurgitation. The patient was treated with prednisone 2mg kg day and penicillin G benzathine with clinical and laboratorial improvement. DISCUSSION: Literature reports HSP associated with rheumatic fever and carditis. Our case adds further evidence to the possibility of streptococcus being a causal agent of HSP.
Assuntos
Vasculite por IgA/complicações , Febre Reumática/etiologia , Criança , Humanos , MasculinoRESUMO
OBJECTIVE: To report the efficacy and adverse events with the use of anti-TNFalpha agents in pediatric patients with rheumatic diseases. PATIENTS AND METHODS: Retrospective, observational clinical case series of patients with rheumatic diseases refractory to the conventional treatment. Infliximab and etanercept were the the drugs used. RESULTS: Thirty patients received anti-TNFalpha therapy: Juvenile Idiopathic Arthritis (18), chronic idiopathic anterior uveitis (2), juvenile dermatomyositis (4), Blau syndrome (1), relapsing polychondritis (2), CINCA syndrome (1), and microscopic polyangiitis (1). Twenty (66,6%) patients used infliximab exclusively, 2 (6,6%) etanercept and 8 (26,6%) both drugs. The response with infliximab was good in 9 patients, partial in 12 and poor in 5. Two patients were not evaluated for the short period of treatment. The response with etanercept was good in 7, partial in 2 and poor in 1. The best benefits were observed in JIA patients with polyarticular arthritis, psoriatic arthritis and enthesitis-related arthritis. Adverse effects occurred in 15 patients (50%). Suspension of the treatment due to adverse events occurred in 7. The most frequent infusion reactions with the infliximab were cough and nausea. Infectious complications occurred in 2 patients receiving etanercept and in 7 receiving infliximab (one death due to sepsis). No patients developed tuberculosis. CONCLUSION: Infliximab and etanercept are effective in some subtypes of juvenile idiopathic arthritis and other rheumatic diseases refractory to conventional therapy. Although frequent, adverse events could be controlled most of the time.
Assuntos
Anticorpos Monoclonais/uso terapêutico , Antirreumáticos/uso terapêutico , Imunoglobulina G/uso terapêutico , Receptores do Fator de Necrose Tumoral/uso terapêutico , Doenças Reumáticas/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Adolescente , Adulto , Anticorpos Monoclonais/efeitos adversos , Antirreumáticos/efeitos adversos , Criança , Pré-Escolar , Etanercepte , Feminino , Humanos , Imunoglobulina G/efeitos adversos , Infliximab , Masculino , Estudos RetrospectivosRESUMO
INTRODUCTION: In children, vasculitis as a paraneoplastic syndrome has never been reported before. In this work we report a vasculitis syndrome as a neoplasm onset manifestation in a child and we discuss our case regarding the data from literature. CASE REPORT: A 7-year-old girl presented with hand and foot ulceration, fixed cyanosis and pallor. During investigation, a central nervous system (CNS) rhabdomyosarcoma with metastasis on multiple sites was diagnosed. DISCUSSION: Rhabdomyosarcomas represent 5 to 8% of child neoplasms, although the CNS seldom is the primary site. In the indexed English language literature there were no published cases of vasculitis associated with rhabdomyosarcoma as a paraneoplastic syndrome in childhood, which suggests that the described report is the first being published. Awareness of this possible coexistence could allow to an earlier diagnosis of neoplasms expressed by vasculitis, leading to an earlier treatment and a longer survival.
Assuntos
Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/diagnóstico , Síndromes Paraneoplásicas/diagnóstico , Rabdomiossarcoma/complicações , Rabdomiossarcoma/diagnóstico , Pele/irrigação sanguínea , Vasculite/etiologia , Criança , Feminino , HumanosRESUMO
Objetivo: apresentar uma revisão sobre as doenças com manifestações músculo-esqueléticas que, mais freqüentemente, levam o adolescente a procurar os serviços médicos, com ênfase nas doenças reumáticas. Com isso, pretendemos oferecer ao médico e à equipe que atende esses adolescentes a possibilidade de pensar em diferentes diagnósticos diferenciais e, daí, traçar o plano diagnóstico, iniciar a abordagem terapêutica e, caso seja necessário, encaminhar para um especialista. método: foram utilizados revisão bibliográfica na base de daos Medline, dados dos serviços, cujos autores participam dessa revisão, e experiência pessoal dos mesmos. Resultados: as manifestações músculo-esqueléticas ocorrem em um número muito grande de enfermidades e constituem motivo freqüente da consulta do adolescente, sendo que as doenças reumáticas constituem cerca de metade dessas doenças. Destas, a mais freqüente em nosso meio é a febre reumática. Na adolescência, são também importantes os pontos de vista de diagnóstico e de tratamento: artrites idiopáticas juvenis, destacando-se a artrite associada à entesite, lúpus eritemetoso sistêmico e vasculites. A fibromialgia, distrofia simpático-reflexa, dores de crescimento, síndrome da hipermobilidade articular e reumatismos psicogênicos constituem condições não-inflamatórias, freqüentemente, simulam doenças reumáticas. Conclusão: condições inflamatórias, e não-inflamatórias, doenças de etiologias diversas como infecciosas, neoplásicas e ortopédicas, dentre outras, constituem causas freqüentes de queixas músculo-esqueléticas, e há necessidade de seu reconhecimento precoce para que o médico que cuida do adolescente possa atuar prontamente, de modoa melhorar o prognóstico de seu paciente