RESUMO
Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abdominal symptoms may also be present. We describe the case of a 4-year-old boy with recurrent inflammatory episodes, fever and cutaneous symptoms who was diagnosed with TRAPS. We review the clinical and laboratory findings, genetic diagnosis, and treatment approach in this disease.
Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Fator de Necrose Tumoral alfa , Pré-Escolar , Humanos , MasculinoRESUMO
El síndrome periódico asociado al receptor del factor de necrosis tumoral (TRAPS) es una enfermedad hereditaria autosómica dominante que se engloba dentro de los síndromes hereditarios de fiebre periódica, los cuales constituyen a su vez el principal subgrupo dentro de las enfermedades autoinflamatorias sistémicas. El TRAPS se caracteriza por episodios inflamatorios prolongados, recurrentes, en los que se objetiva fiebre y parámetros analíticos inflamatorios elevados que pueden acompañarse de clínica articular, cutánea, ocular y abdominal. Se presenta el caso de un niño de 4 años de edad con episodios inflamatorios recurrentes caracterizados por fiebre asociada a manifestaciones cutáneas diagnosticado de TRAPS. Se revisan los hallazgos clínicos, analíticos, diagnóstico genético y tratamiento de esta enfermedad (AU)
Tumoral necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited disease belonging to the hereditary periodic fever syndromes, which are the main subgroup among systemic autoinflammatory diseases. TRAPS is characterized by prolonged and recurrent inflammatory attacks associated with fever and an acute phase reaction. Articular, cutaneous, ocular and abdominal symptoms may also be present. We describe the case of a 4-year-old boy with recurrent inflammatory episodes, fever and cutaneous symptoms who was diagnosed with TRAPS. We review the clinical and laboratory findings, genetic diagnosis, and treatment approach in this disease (AU)
Assuntos
Humanos , Masculino , Pré-Escolar , Fator de Necrose Tumoral alfa , Síndrome de Resposta Inflamatória Sistêmica/complicações , Síndrome de Resposta Inflamatória Sistêmica/terapia , Corticosteroides/uso terapêutico , Síndrome de Resposta Inflamatória Sistêmica/diagnóstico , Síndrome de Resposta Inflamatória Sistêmica/genéticaRESUMO
No disponible
Assuntos
Recém-Nascido , Masculino , Lactente , Humanos , Feminino , Doenças do Prematuro , Hafnia alvei , Infecções por Enterobacteriaceae , Infecção Hospitalar , Sepse , Unidades de Terapia Intensiva Neonatal , Anti-Inflamatórios não Esteroides , Resultado do Tratamento , Aspirina , Síndrome de Linfonodos Mucocutâneos , Imunoglobulina GRESUMO
La enfermedad de Kawasaki es un cuadro de descripción reciente con una etiopatogenia confusa y con un diagnóstico fundamentalmente clínico. Existen formas muy típicas de la enfermedad que son fáciles de diagnosticar, pero cada vez se presentan más casos atípicos o incompletos que pueden pasar inadvertidos o que se diagnostican tardíamente. Es un síndrome que puede tener graves alteraciones cardiovasculares, por lo que es imprescindible realizar un diagnóstico y un tratamiento precoces para intentar evitar su morbimortalidad (AU)
Assuntos
Humanos , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Aneurisma Coronário/etiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Síndrome de Linfonodos Mucocutâneos/etiologia , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , gama-Globulinas/administração & dosagem , gama-Globulinas/farmacologia , Injeções Intravenosas , Evolução Clínica , Sinais e Sintomas , Superantígenos , Prognóstico , FáciesRESUMO
OBJECTIVE: The purpose of this study was to analyze the properties of Raynaud's phenomenon in childhood, as well as its evolution, pathology and differences with regard to adults. PATIENTS AND METHODS: The cases of patients affected by Raynaud's phenomenon between 1988 to 1996 in the pediatric rheumatology unit of Sant Joan de Déu in Barcelona have been reviewed. We evaluated the information regarding the clinical history and the complementary tests performed. RESULTS: We examined the results of eight cases affected by Raynaud's phenomenon. All of these were girls with an average age of 9 years and 9 months. The most typical clinical feature was sensitivity to cold. From an analytical point of view, 62.5% of the cases had positive antinuclear antibodies. Nail-fold capillary microscopy, which was carried out in all patients, was abnormal in six cases and had a "scleroderma-like" pattern in three of them. According to Le Roy-Medsger diagnostic criteria, we found one case (12.5%) of Raynaud's phenomenon classified as primary, five more (62.5%) as probably secondary to a connective tissue disease and two cases as secondary (25%, a sclerodermic and connective tissue disease). CONCLUSION: Raynaud's phenomenon could be the first symptom of a connective tissue disease, but in general there is a low prevalence in childhood. It is important to follow up these girls for a long period because of the high probability of developing a connective tissue disease. It is possible to do this thanks to anamnesy, clinical exploration, searching for antinuclear antibodies and nail-fold capillary microscopy.
