Abstract：
Aquagenic wrinkling of palms (AWP) in cystic fibrosis (CF) patients and common CFTR mutations is recognized as a frequent symptom of the disease. The long-term effect of CFTR targeting therapy on AWP has not been studied. AWP was monitored in 16 CF patients (8 children and 8 adults) before and for 6 months after initiation of ivacaftor therapy. Thirteen (81.3%) patients had at least mild and 8/16 (50%) moderate-to-severe AWP at baseline. AWP improved with ivacaftor therapy. This observation suggests that AWP is also common in individuals with CF and relatively rare mutations and is directly related to CFTR function.
摘要：
囊性纤维化（CF）患者的手掌水生性皱纹（AWP）和常见的CFTR突变被认为是该疾病的常见症状。尚未研究CFTR靶向治疗对AWP的长期影响。在开始ivacaftor治疗之前和之后6个月内，对16名CF患者（8名儿童和8名成人）进行了AWP监测。13例(81.3%)患者在基线时具有至少轻度和8/16(50%)中度至重度AWP。使用ivacaftor治疗可改善AWP。该观察表明AWP在具有CF和相对罕见的突变的个体中也是常见的,并且与CFTR功能直接相关。
