TY - JOUR T1 - Would it have happened without Christmas? Thoracic emphysema and allergic bronchopulmonary aspergillosis in a juvenile cystic fibrosis patient with the G551D mutation receiving ivacaftor JF - ERJ Open Research JO - erjor DO - 10.1183/23120541.00758-2020 VL - 7 IS - 2 SP - 00758-2020 AU - Jochen G. Mainz AU - Nina Erdmann AU - Franziska Duckstein AU - Carlos Zagoya Y1 - 2021/04/01 UR - http://openres.ersjournals.com/content/7/2/00758-2020.abstract N2 - We report on a then 13-year-old female patient with cystic fibrosis (CF) compound heterozygous for the mutations G551D and N1303K. Despite a history of intermittent pulmonary colonisation with Pseudomonas aeruginosa and moderate pulmonary haemorrhages before initiating ivacaftor, our patient still had a good pulmonary function (forced expiratory volume in 1 s (FEV1) 95–105% predicted) at baseline. Furthermore, she had a stable nutritional status by pancreatic enzyme replacement therapy (PERT) above 7000 IE lipase·kg−1 body weight per day. Nevertheless, when the cystic fibrosis 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 of 128% pred (3.43 L). Simultaneously, the patient reduced and eventually stopped her enzyme substitution. Yet, her nutritional status remained stable (body mass index >50th 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.Potent CFTR modulators improve CF manifestations far beyond expectations, including reduction of risk of typical complications. This is the first report of a patient who developed life-threatening ABPA and emphysema after overwhelming improvement. https://bit.ly/2P96PTyThe authors are grateful for the patient's support and continuous interest. We thank Hans-Joachim Mentzel, Jena University Hospital, for the provision of the patient's chest radiograph. ER -