Neutropenia congênita
Congenital neutropenia
Paolo Ruggero Errante; Josias Brito Frazão; Antônio Condino Neto
Resumo
Buscamos aqui revisar os mecanismos imunopatológicos relacionados à neutropenia congênita. O termo neutropenia congênita é utilizado para designar uma série de distúrbios neutropênicos, de caráter permanente, intermitente, grave (< 500 neutrófilos/mm3 de sangue), ou moderado (entre 500-1.500 neutrófilos/mm3 de sangue), que podem acometer pele e mucosa do trato respiratório e gastrintestinal. Quando a neutropenia é diagnosticada, ela deve ser distinguida das formas adquiridas, incluindo a neutropenia pós-viral e a autoimune, da forma congênita, que pode ser uma enfermidade isolada ou fazer parte de uma doença genética. Cinquenta por cento das formas congênitas de neutropenia apresentam manifestação extra-hematopoiética com resposta imune adaptativa normal e infecções recorrentes no início da vida. O tratamento destes pacientes tem por objetivo o controle e a prevenção de infecções através do uso profilático de antibióticos, e outra forma de tratamento consiste na utilização de fator estimulador de colônia de granulócitos recombinante humano (rHUG-CSF), que aumenta o número de granulócitos, diminui o número infecções e melhora de forma significativa a sobrevida e qualidade de vida. A revisão foi realizada por levantamento bibliográfico de banco de dados obtidos através de pesquisa direta, LILACS, MEDLINE e capítulos de livros. A revisão literária demonstra a importância dos neutrófilos pela defesa do hospedeiro contra micro-organismos, e defeitos genéticos que envolvem estas células acarretam maior susceptibilidade a infecções microbianas em locais como pele e mucosa do trato respiratório e gastrintestinal. Estes defeitos genéticos dos neutrófilos envolvem o seu número, função, ou ambos. Como estes defeitos envolvendo fagócitos são de caráter congênito e hereditário, as crianças são os pacientes predominantes. Os neutrófilos apresentam um papel importante na imunidade inata, prevenindo o surgimento de infecções de repetição. O tratamento com rHUG-CSF aumenta o número de granulócitos, diminui o número de novas infecções e melhora de forma significativa a sobrevida e qualidade de vida. O transplante de células-tronco hematopoiéticas é indicado em casos refratários ao tratamento com rHUG-CSF que apresentam infecções recorrentes graves e resistência ao tratamento sem detecção de mielodisplasia/leucemia.
Palavras-chave
Abstract
Here we aim to review pathogenic mechanisms related to congenital neutropenia. The term congenital neutropenia has been used to designate a series of neutropenic disorders that can be permanent, intermittent, severe (< 500 neutrophils/mm3) or moderate (500-1500 neutrophils/ mm3), which could affect the skin and mucosa of the respiratory and gastrointestinal tracts. When neutropenia is diagnosed, it is necessary to distinguish between the acquired form, including post-viral and autoimmune neutropenia, and the congenital form, a disease that can occur either alone or as part of a genetic disease. Fifty percent of the congenital forms of neutropenia have extra-hematopoietic manifestations, with normal adaptive immune response and recurrent infections in early life. Treatment of these patients focuses primarily on controlling and preventing infections through the use of prophylactic antibiotics; another treatment approach is the use of recombinant human granulocyte colony-stimulating factor (rHUG-CSF), which increases the number of granulocytes, reduces the number of infections, and significantly improves survival rates and quality of life in these patients. Papers were directly searched on the LILACS and MEDLINE database. Book chapters were also reviewed. The literature reviewed underscores the importance of neutrophils for host defense against microorganisms and the association between genetic defects involving these cells and an increased susceptibility to microbial infections in the skin and mucosa of the respiratory and gastrointestinal tracts. Genetic defects may affect neutrophil number, function, or both. Because defects involving phagocytes have a congenital and hereditary origin, children are the most common patients. Neutrophils have an important role in innate immunity, preventing the emergence of recurrent infections. Treatment with rHUG-CSF increases the number of granulocytes, decreases the number of new infections, and significantly improves survival rates and quality of life. Hematopoietic stem cell transplantation is indicated in patients refractory to rHUG-CSF treatment with severe and recurrent infections and resistance to treatment with no detection of myelodysplasia/leukemia.
Keywords
References
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Submitted date:
07/30/2012
Accepted date:
03/23/2013
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