National Institute for Health Research, Southampton Biomedical Research Centre, Southampton Children's Hospital, Tremona Road, Southampton, Hampshire SO16 6YD, UK.
National Institute for Health Research, Southampton Biomedical Research Centre, Southampton Children's Hospital, Tremona Road, Southampton, Hampshire SO16 6YD, UK.
Paediatr Respir Rev. 2018 Jun;27:16-17. doi: 10.1016/j.prrv.2018.05.008. Epub 2018 May 19.
Lumacaftor/ivacaftor is a precision medicine targeting the defective cystic fibrosis transmembrane regulator (CFTR) protein in cystic fibrosis (CF) patients homozygous for Phe508del genotype. Whilst there is evidence for efficacy in children aged 6-11 years who are stable with good lung function, there are little data about the use of this medication for children with acute deterioration in this age group. We describe the use of this drug to treat a child with an unusually severe exacerbation of CF lung disease and review the potential of lumacaftor/ivacaftor as a rescue therapy in the paediatric CF population.
Lumacaftor/ivacaftor 是一种针对囊性纤维化（CF）患者中纯合 Phe508del 基因型缺陷囊性纤维化跨膜转导调节因子（CFTR）蛋白的精准医学药物。虽然有证据表明 lumacaftor/ivacaftor 对 6-11 岁肺功能良好且稳定的儿童有效，但对于该年龄段儿童急性恶化时使用该药的数据较少。我们描述了该药治疗一名 CF 肺部疾病严重恶化的儿童的使用情况，并回顾了 lumacaftor/ivacaftor 在儿科 CF 人群中作为抢救治疗的潜力。
