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Received Feb 25, 2018; Accepted Apr 10, 2018
This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
1. Introduction
In the few years since their FDA approval and introduction into Cystic Fibrosis (CF) care and management, cystic fibrosis transmembrane conductance regulator (CFTR) modulators are changing the face of CF care with demonstrated benefits in various domains, even bearing the promise to modify disease progression [1]. The combination lumacaftor/ivacaftor (LUM/IVA) was the first of these drugs to receive FDA approval for the treatment of patients homozygous for the Phe508del CFTR mutation. Lumacaftor increases the amount of mutated CFTR protein reaching the cell surface, while ivacaftor enhances the open probability of rescued CFTR channels already on the cell surface. Patients with the Phe508del mutation benefit from the combined action of the two agents, which results in an increased amount of chloride being transferred through the cell membrane [2]. Commonest side-effects comprise respiratory and gastrointestinal symptoms, along with elevated liver enzymes, but overall the drug demonstrated a safe profile and was generally well-tolerated in phase 3 trials [1].
Herein we document the case of a patient who was prescribed LUM/IVA and the therapeutic dilemma that occurred shortly after treatment initiation. The patient provided written informed consent for the publication of this report.
2. Case Report
The patient is a 22-year-old woman of Caucasian origin diagnosed with CF shortly after birth, due to meconium ileus, which was operated on the second day of life. Diagnosis was confirmed with sweat testing and DNA mutation analysis which revealed F508del homozygosity. At nine years she underwent further abdominal surgery for DIOS and at 13 years she presented with nasal polyps, which were treated surgically, too. She has been colonized with Pseudomonas aeruginosa (PsA) since the age of 8 years and subsequently she has been receiving an average of two courses of i.v. antipseudomonal antibiotics per year.
At the age of 14 years her FEV1 was 95% predicted and her BMI 26.4 kg/m2. The same year she was diagnosed with allergic bronchopulmonary aspergillosis (ABPA). She was started on oral corticosteroids and itraconazole and was complicated with invasive aspergillosis that was successfully...