fibrose quística – caracterização clínica de uma amostra de doentes portugueses

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ID: 194187
2005
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Abstract
Resumo: Apesar dos rápidos avanços na compreensão dos determinantes moleculares da fibrose quística, esta continua a ser uma das doenças recessivas letais mais comuns na população caucasiana em todo o mundo. A realidade dos doentes portugueses continua a ser pouco conhecida, pela escassez de trabalhos publicados referentes à nossa população.Este trabalho tem como objectivos: fazer uma avaliação clínica de um grupo de doentes portugueses com fibrose quística, com 2 mutações identificadas e comparar a apresentação clínica de um grupo de doentes homozigóticos para a mutação F508del com doentes não homozigóticos para esta mutação.Para tal, seleccionou-se um grupo de doentes em seguimento na Consulta de Pneumologia Pediátrica do HSJ que foram caracterizados do ponto de vista fenotípico e classificados de acordo com critérios de gravidade.Todos os doentes desta amostra apresentaram mutações de classe I e/ou II, que se associam, classicamente, a fenótipo mais grave. Em conformidade com a gravidade genotípica, todos os doentes apresentaram um fenótipo de insuficiência pancreática mas com maior variabilidade de manifestações pulmonares.Não se encontraram variações significativas em termos de idade de diagnóstico, formas de apresentação e gravidade da doença entre doentes homozigóticos F508del e restantes doentes. Em contrapartida, doentes com o mesmo genótipo (homozigóticos F508del) apresentaram diferentes espectros de manifestações clínicas e de gravidade fenotípica. Tanto ou mais do que a caracterização genotípica, o tempo de evolução da doença e os factores externos (nomeadamente a sujeição a estímulos infecciosos) deverão interferir na gravidade do fenótipo num dado momento.Rev Port Pneumol 2005; XI (4): 381-406 Abstract: Even though there have been rapid advances in the comprehension of molecular determinants of Cystic Fibrosis, this disease continues to be one of the most common lethal recessive diseases in the Caucasian population worldwide.The reality of Portuguese patients is still greatly unknown, due to the lack of studies published in reference to our population.The objectives of this study were: clinical evaluation of a group of Portuguese patients with Cystic Fibrosis, with two identified mutations; comparing the clinical presentation of a group of homozygous patients for the F508del mutation with patients that are not homozygous for this mutation.A group of patients, followed in Pediatric Pneumology Consultations of S. João Hospital, were characterised in terms of phenotype and were classified according to criteria of severity.All of the patients in this group presented class I and/ or II mutations, classically associated with a more severe phenotype. In conformity with the severe genotype, all patients presented a phenotype of pancreatic insufficiency but with greater variability of pulmonary manifestations.Significant variations were not found in terms of age at diagnosis, presenting forms and disease severity between F508del homozygous patients and the other patients. On the other hand, patients with the same genotype (homozygous F508del) presented different spectrums of clinical manifestations and phenotype severity.Just as much, or even more than the genotype characterisation, the time period of evolution of the disease and external factors, namely being subjected to infectious stimulus, interfere in the severity of the phenotype, at a certain moment in time.Rev Port Pneumol 2005; XI (4): 381-406 Palavras-chave: Fibrose quística, fenótipo, genótipo, Key-words: Cystic fibrosis, phenotype, genotype
Reference Key
guardiano2005revistafibrose Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Micaela Guardiano;Luísa Guedes Vaz
Journal the journal of applied psychology
Year 2005
DOI
DOI not found
URL
http://www.sciencedirect.com/science/article/pii/S0873215915305146
Keywords
diseases of the respiratory system

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