Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

• Autor(a) principal: Jesus, Adriana Almeida
• Data de Publicação: 2010
• Outros Autores: Oliveira, João Bosco, Hilário, Maria Odete Esteves [UNIFESP], Terreri, Maria Teresa Ramos Ascensão [UNIFESP], Fujihira, Erika, Watase, Mariana, Carneiro-Sampaio, Magda Maria Sales, Silva, Clovis Artur Almeida da
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0021-75572010000500003; http://repositorio.unifesp.br/handle/11600/5970
• topic: Autoinflammatory syndromes; child; familial Mediterranean fever; cryopyrinopathies; TRAPS; NOMID; Síndrome autoinflamatória; criança; febre familiar do Mediterrâneo; criopirinopatias; TRAPS; NOMID

OBJECTIVE: To describe the most prevalent pediatric hereditary autoinflammatory syndromes. SOURCES: A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. SUMMARY OF THE FINDINGS: The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome) Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. CONCLUSIONS: Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.