Fibrose cística em dois irmãos adultos em estado da Amazônia: estudo de caso

Abstract

Cystic fibrosis (CF) is a genetic disease with defective chloride transport across cell membranes, causing exocrine glands present viscous secretions. It mainly affects the lungs, pancreas and sweat glands. The life expectancy was 2 years in the past, today increased to 37 years. The objective is to report cases of CF in two adult brothers in the Amazon. Patient 01: 33, since adolescence had dyspnea on exertion, cough and pneumonia. In adulthood, it evolved with worsening of lung function and hypersecretion, being diagnosed with cystic fibrosis by two positive sweat tests. Presented infectious complications, was admitted to perform antibiotic therapy during hospitalization had respiratory failure and shock. Was referred to the ICU (Intensive Care Unit), where hemodynamic stabilization was attempted, however, he presented clinical deterioration and evolved to death. Patient 02: 32, had in childhood cough secretive and dyspnea on exertion. As an adult, the symptoms worsened. In consultation was evaluated and diagnosed with CF through positive test sweat. Follow stable with occasional antibiotics for clinical exacerbations. The family had positive history for the disease, with a brother and paternal aunt deceased with diagnostic and clinical history suggestive, respectively. Discussion: Affirming the genetic character of the CF, described the report of two adult patients and siblings. The disease is directly related to the severity of lung disease. One patient had malnutrition, confirming the severe pancreatic insufficiency described in the literature. Studies say that infertility is common in most CF patients, unlike patients in this study, who already have formed offspring. One patient died during the study, confirming the poor prognosis of the disease. Conclusion: The study is configured as important local registry on the subject presented in view of the scarcity of scientific literature on the CF. The biggest incentive for research in this area of knowledge is necessary for patients with the disease are diagnosed early and more grounded way, thus improving the quality and life expectancy.