Erros inatos de imunidade: tempo de diagnóstico e episódios infecciosos em pacientes ambulatoriais
Inborn errors of immunity: time to diagnosis and infections in outpatients
Naiara de Oliveira Pazian; Laura Lúcia Cogo; Denise Eli; Carlos Antônio Riedi; Herberto Jose Chong-Neto; Nelson Augusto Rosario-Filho
Resumo
Introdução: Os erros inatos de imunidade (EII) são distúrbios que ocasionam danos no desenvolvimento e/ou função do sistema imunológico. O diagnóstico muitas vezes não é realizado de imediato devido ao pouco conhecimento sobre as doenças, que leva a complicações graves e diminui a sobrevida e qualidade de vida desses pacientes. O objetivo desse estudo foi avaliar o tempo para o diagnóstico e as ocorrências infecciosas que acometeram pacientes com EII no decorrer de sua vida até o momento do diagnóstico. Método: Foi realizado um estudo transversal, retrospectivo, em pacientes atendidos pelo serviço de Alergia, Imunologia e Pneumologia do Complexo Hospital de Clínicas da Universidade Federal do Paraná (CHC-UFPR), no período de junho de 1993 a março de 2019. Foram excluídos pacientes sem história prévia ao diagnóstico e com diagnóstico não confirmado de EII ou indefinido. Resultados: Dos 57 pacientes incluídos no estudo, a maioria (n = 34) era do sexo masculino. A idade ao diagnóstico variou de 2 até 38 anos, sendo a média 9 anos. Dentre as imunodeficiências, 43 (75,4%) tinham deficiência de anticorpos, 10 (17,5%) deficiência combinada, 3 (5,3%) deficiência de fagócitos e 1 (1,8%) deficiência de complemento. Em relação às infecções, os pacientes apresentaram mais de um episódio infeccioso, e também sofreram acometimento em mais de um sítio anatômico. As infecções mais frequentes foram as do trato respiratório inferior (80,7%), seguido das infecções do trato respiratório superior (50,9%). Foi encontrado um atraso médio de diagnóstico de 66,1 meses, sendo que 10,5% dos pacientes foram a óbito. Conclusão: Apesar de já serem bem caracterizados, os EII ainda possuem diagnóstico tardio, levando os pacientes a complicações graves, e até à morte.
Palavras-chave
Abstract
Introduction: Inborn errors of immunity (IEIs) cause damage in the development and/or function of the immune system. The diagnosis is often not done immediately because of lack of knowledge about the disorders, leading to serious complications and decreasing the survival and quality of life of these patients. The aim of this study was to evaluate time to diagnosis and occurrence of infections that affected patients with IEI throughout their life-span until the diagnosis. Methods: A retrospective crosssectional study was performed in patients treated at the Division of Allergy, Immunology and Pulmonology of the Complexo Hospital de Clínicas at Universidade Federal do Paraná, from June 1993 to March 2019. Patients with no history prior to diagnosis and those with unconfirmed diagnosis of IIE or undefined diagnosis were excluded from the study. Results: Of the 57 patients included in the study, most were male (n = 34). The mean age at the time of diagnosis was 9 years, ranging from 2 to 38 years. Among the immunodeficiencies, 43 (75.4%) patients had antibody deficiency disorder, 10 (17.5%) had combined immunodeficiency, 3 (5.3%) had phagocyte deficiency and 1 (1.8%) had complement disorder. Regarding infections, patients had more than one infectious episode and were affected in more than one anatomical site. The most frequent infections were those of the lower respiratory tract (80.7%), followed by upper respiratory tract infections (50.9%). A mean diagnosis delay of 66.1 months was found, and 10% of the patients died. Conclusion: Despite being well characterized, IEIs still have late diagnosis, leading patients to serious complications and even death.
Keywords
Referências
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Submetido em:
21/02/2020
Aceito em:
27/02/2020
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