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Type: Artigo de periódico
Title: Age Of Diagnosis And The Clinical Phenotypes Of Adult Patients With Cystic Fibrosis
Author: Paschoal I.A.
Pereira M.C.
Abstract: Introduction: Despite being a monogenic disease, Cystic Fibrosis has always been considered a clinical syndrome that may involve multiple organs. Over the past decades survival has improved and currently the median survival is approximately 38 years. Also, it is now recognized that there are patients with milder or atypical forms of CF, whose diagnosis is usually made at a later age. Objectives: To summarize the clinical characteristics of late diagnosed CF patients in published cohorts and to discuss the possible explanations for the phenotype heterogeneity of the disease. Methods: A search in PubMed was conducted using the terms atypical cystic fibrosis, late survivors and cystic fibrosis, longevity and cystic fibrosis, and late diagnosis and cystic fibrosis. A total of 601 references in English were gathered and a review was undertaken to separate the articles that were related to the objectives. Results and discussion: The following are the main characteristics of late diagnosed CF patients: the symptoms may start in infancy but the disease becomes clinically significant after 10 years old, the lung is the most affected single organ, pancreatic sufficiency is more common, borderline chloride sweat values are frequent, and DF508 mutation is less common. Few mutations are clearly associated with mild forms of CF. Individuals with similar mutations may have different clinical manifestations, suggesting that the variability in CF phenotype is influenced by CFTR genotype as well as by other genetic and environmental factors. Conclusion: Clinicians should be aware of this less frequent form of the disease, with single organ manifestations and late presentation and diagnosis.
Rights: fechado
Identifier DOI: 
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

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