医学
囊性纤维化
支气管扩张
囊性纤维化跨膜传导调节器
斯科普斯
内科学
梅德林
肺
生物
生物化学
作者
Miguel Ángel Martínez-García
标识
DOI:10.1016/j.jcf.2022.04.018
摘要
Although talking about cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction has traditionally been synonymous with talking about cystic fibrosis (CF) (even the name of the disease itself is included in the name of the molecule), it should be remembered that the term really refers to a continuous spectrum of alterations in the amount and/or function of CFTR, whose genetic basis is known in greater detail and explain, at least in part, the great heterogeneity of CF [1–3]. At the most severe end of this spectrum lies the loss of function in both copies of the CFTR gene that will cause severe CF while partial reductions in its activity (for example, due to the presence of a deleterious variant) could go unnoticed or have clinical consequences that cannot be classified under the concept of CF [4].
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