音声学と聴覚学ジャーナル
オープンアクセス

概要

Cystic Fibrosis: Correlations between Genotype and Phenotype

Sur Genel, Sur M Lucia, Sur Daniel and Floca Emanuela

Cystic fibrosis is a clinical entity with multiple representations. Despite acquired knowledge, there is still unknown information about this disease. We tried to define the relationship between classes of mutations and clinical manifestations. We also tried to structure clinical manifestations depending on the most commonly found mutations, not minimizing intervention of environmental factors and modifier genes. We found that patients from the same family with the same mutation had different clinical manifestations, thus highlighting intervention of environmental factors and modifier genes. Diagnosis of cystic fibrosis is not easy because there are sometimes symptoms blurred, sometimes suggestive, but support the diagnosis by laboratory methods is not always possible. It is important that this condition be diagnosed as early as possible, even at birth, in order to prevent complications of the disease.