A non-consanguineous two-generation family of parent and monozygous twins who all three share the same CFTR mutation genotype p.Phe508del / p.Arg117His, was examined in clinical features, sweat test, nasal potential difference and intestinal current measurements. As expected the twins were very much alike in anthropometry and appearance and shared the clinical manifestation of CFTR dysfunction albeit at different intensity but unexpectedly like in comparison to their mother they were discordant in their CFTR-mediated basic defect and the response thereof to CFTR potentiation by ivacaftor. This case report illustrates the strong impact of non-inherited factors on the electrophysiological phenotype of the most common CFTR mutation genotype of variable clinical significance.

在临床特征、汗液测试、鼻电位差和肠电流测量中检查了父母和同卵双胞胎的非近亲两代家庭，他们三人都具有相同的CFTR突变基因型 p.Phe508del / p.Arg117His。正如预期的那样，这对双胞胎在人体测量学和外观上非常相似，并且共享 CFTR 功能障碍的临床表现，尽管强度不同，但出乎意料的是，与他们的母亲相比，他们的 CFTR 介导的基本缺陷及其对 CFTR 增强的反应不一致依伐卡托。该病例报告说明了非遗传因素对具有不同临床意义的最常见CFTR突变基因型的电生理表型的强烈影响。