Desafios no cuidado de pessoas com erros inatos da imunidade : itinerários terapêuticos e impactos na família

Abstract

Introduction: Inborn errors of immunity (IEI) are caused by changes in immunity, expressed by infections, allergies, neoplasms, autoimmune and inflammatory manifestations. The worldwide occurrence is close to 1:1200, and in Brazil it is still unknown. IEI form a heterogeneous group of 485 diseases, some ultra-rare and others more frequent. Objectives: to analyze the trajectories of people with IEI in search of diagnosis and treatment in the health care network to a university hospital, to address the care alternatives and the impacts on the family. Methods: qualitative, descriptive and exploratory research, in which recorded interviews were conducted with patients with IEI in a university hospital. The narratives were interpreted by content analysis and based on the theoretical frameworks: Therapeutic Itineraries and IEI. Results: the sample resulted in 7 patients, four were men and threes were women and the age at the beginning of treatment ranged from 6.9 to 30 years. The narratives showed 4 thematic categories: "the challenges in living with symptoms", especially cough; "the search forcare in the health care network", revealing a delay in diagnosis between 6 and 29 years; "the alternatives of care" marked by spirituality and "the impacts of the disease on the family" resulting in emotional and financial instability. The patients reported several infections, the most frequent being sinusitis and pneumonia. In this sense, as a technological technical product, the projectof conversation circles among primary health care professionals about inborn errors ofimmunity was formulated. The objective is to share experiences and knowledge among health workers, promote active and reflective attitudes, facilitating the multiplication of knowledge in primary health care about inborn errors of immunity. Final considerations: the trajectories of people with IEI revealed several accesses to the health system, successive hospitalizations, inadequate care, and late diagnosis. Thesefindings may contribute to alerting health professionals to suspect IEI, favoring early diagnosis and treatment. This Master's Conclusion Work is the result of the stricto sensu Graduate Program Professional Master's Degree in Family Health (PROFSAÚDE).