Imunodeficiência combinada grave: uma revisão da literatura
Severe combined immunodeficiency: review of the literature
Juliana Cantagalli Pfisterer; Sabrina Vargas Martini; Paolo Ruggero Errante; Josias Brito Frazão
Resumo
A imunodeficiência combinada grave (SCID) é uma condição clínica caracterizada por marcante comprometimento da resposta imune envolvendo linfócitos T e/ou B e/ou células NK, que conduz a aumento da susceptibilidade a infecções e alta taxa de mortalidade em crianças acometidas. Dificuldades na interpretação dos sintomas clínicos e na identificação de mutações genéticas, devido à ampla variedade fenotípica e genotípica da doença, representam obstáculos para o diagnóstico. Por outro lado, o tratamento é realizado de forma independente da identificação de mutação genética. O objetivo do presente trabalho foi revisar aspectos fisiopatológicos, métodos diagnósticos e tratamentos utilizados em pacientes com SCID. A revisão foi realizada com base em levantamento bibliográfico de banco de dados indexados disponíveis na Internet incluindo LILACS, MEDLINE, PubMed, SciELO Brasil, periódicos CAPES e Cochrane, e foi conduzida com os seguintes critérios de inclusão: artigos científicos publicados nos idiomas português e inglês, dentro do período de 1963 a 2014 e que possuíam as palavras-chave “Imunodeficiência Combinada Grave”, “SCID”, “Leucopenia”, “Diagnóstico”, “Tratamento” e “Transplante de medula óssea”. O levantamento bibliográfico revelou dificuldades no diagnóstico clínico, laboratorial e genético-molecular, e ressaltou a importância do diagnóstico precoce conduzindo ao tratamento adequado. O diagnóstico precoce da SCID tem papel crucial na melhora da qualidade de vida e na sobrevida dos pacientes, além de favorecer intervenções terapêuticas que previnem o surgimento de infecções e complicações clínicas subsequentes.
Palavras-chave
Abstract
Severe combined immunodeficiency (SCID) is a clinical condition characterized by marked impairment of immune responses involving T and/or B lymphocytes and/or NK cells, leading to increased susceptibility to infections and a high mortality rate among affected infants. Difficulties in the interpretation of clinical symptoms and in the detection of genetic mutations make diagnosis a challenge because of the phenotypic and genotypic heterogeneity associated with the disease. Treatment is performed regardless of the detection of a genetic mutation. The objective of the present study was to review pathophysiological aspects, diagnostic methods, and therapies used in patients with SCID. The review included papers available in online databases, including LILACS, MEDLINE, PubMed, SciELO Brazil, Periódicos CAPES, and Cochrane. Papers were searched considering the following inclusion criteria: research articles published in Portuguese or English, between years 1963 and 2014, containing the keywords "Severe Combined Immunodeficiency," "SCID," "Leukopenia," "Diagnosis," "Treatment," and "Bone Marrow Transplantation." The review revealed difficulties in clinical, biochemical, and molecular genetic diagnosis, and emphasized the importance of early diagnosis leading to appropriate treatment. Early diagnosis of SCID is crucial to improve the quality of life and survival of patients, and it allows the use of therapeutic interventions that prevent the onset of infections and subsequent clinical complications.
Keywords
References
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Submitted date:
06/22/2014
Accepted date:
05/09/2015
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