TY - JOUR T1 - Had it happened without Christmas? Thoracic emphysema and Allergic Bronchopulmonary Aspergillosis in a juvenile CF-patient with G551D receiving ivacaftor JF - ERJ Open Research JO - erjor DO - 10.1183/23120541.00758-2020 SP - 00758-2020 AU - Jochen G. Mainz AU - Nina Erdmann AU - Franziska Duckstein AU - Carlos Zagoya Y1 - 2021/01/01 UR - http://openres.ersjournals.com/content/early/2021/03/18/23120541.00758-2020.abstract N2 - We report on a then thirteen-year-old female patient with cystic fibrosis (CF) compound heterozygous for the mutations G551D and N1303K. Despite history of intermittent pulmonary colonisation with P.aeruginosa and moderate pulmonary haemorrhages before initiating ivacaftor, our patient still had a good pulmonary function (FEV1: 95–105%pred.) at baseline. Furthermore, she had a stable nutritional status by pancreatic enzyme replacement therapy (PERT) above 7000IE Lipase·kg−1 body weight·day−1. Nevertheless, when the CF-Transmembrane Conductance Regulator (CFTR)-modulator ivacaftor was introduced in April 2013 and approved for CF-patients carrying a gating mutation, i.e. G551D [1–3], she improved considerably. Her pulmonary function increased by more than 20% to above–average; resulting in an FEV1: 128% pred. (=3.43 L). Simultaneously, the patient reduced and eventually stopped her enzyme substitution. Yet, her nutritional status remained stable (BMI >50.percentile) without increase in stool frequency or other clinical signs of maldigestion. In parallel, her sweat-chloride improved from 87.5 to 29.6 mmol·L−1 (to the normal range). It is noteworthy that she took trumpet lessons and even joined her school's big band in her leisure time.FootnotesThis manuscript has recently been accepted for publication in the ERJ Open Research. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article.Conflict of interest: J.G. Mainz reports grants for investigator-initiated trials from Vertex Corp. during the conduct of the study, and personal fees for advisory boards and lectures from Chiesi, Mylan and Vertex outside the submitted work.Conflict of interest: Erdmann has nothing to disclose.Conflict of interest: Duckstein has nothing to disclose.Conflict of interest: Dr. Zagoya has nothing to disclose. ER -