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.
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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 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.
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OBJECTIVE: This study aimed to assess the safety and immunogenicity of the quadrivalent human papillomavirus (qHPV) vaccination in childhood-onset systemic lupus erythematosus (cSLE) patients. METHODS: Volunteer cSLE patients aged 9-20 years and healthy controls (HC) were enrolled to receive a two- or three-dose qHPV vaccination schedule from March 2014 to March 2016. Study visits were performed before the first dose, one month after the second and third doses and one year after the first dose. In each study visit, disease activity and adverse events following vaccination were analyzed, and a serum sample was collected for testing antibody concentrations. Participant recruitment was conducted in 15 Brazilian paediatric rheumatology units. Of the 256 cSLE patients included, 210 completed the two- or three-dose schedules; 15 had previously received one dose, and 18 had received two doses of the vaccine. The analysis was based on intention-to-treat so that participants who did not complete the entire study protocol were also included. RESULTS: No severe adverse events were related to the vaccination. Disease activity was generally low and remained stable or even improved. The HC presented 100% seropositivity to HPV16 and HPV18, whereas the two- and three-dose cSLE groups presented 93% and 83% versus 97% and 91%, respectively. One year after the first dose, seropositivity of the three-dose cSLE group was 91% to HPV16 and 84% to HPV18. CONCLUSIONS: HPV vaccination in cSLE patients is safe and immunogenic. Since the seropositivity to HPV16 and HPV18 was higher for the three-dose schedule group, this regimen should be recommended for cSLE patients.
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Anticorpos Antivirais/sangue , Vacina Quadrivalente Recombinante contra HPV tipos 6, 11, 16, 18/imunologia , Imunogenicidade da Vacina/imunologia , Lúpus Eritematoso Sistêmico/imunologia , Vacinação/métodos , Adolescente , Brasil , Estudos de Casos e Controles , Criança , Feminino , Vacina Quadrivalente Recombinante contra HPV tipos 6, 11, 16, 18/administração & dosagem , Humanos , Lúpus Eritematoso Sistêmico/sangue , Masculino , Infecções por Papillomavirus/prevenção & controle , Adulto JovemRESUMO
The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Brazilian Portuguese language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 231 JIA patients (14.7% systemic, 43.3% oligoarticular, 22.5% RF negative polyarthritis, 19.5% other categories) and 72 healthy children, were enrolled in three centres. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed good psychometric performances. In conclusion, the Brazilian Portuguese version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.
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Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Nível de Saúde , Humanos , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , TraduçãoRESUMO
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.
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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
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.
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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.