Successful Pregnancy of a Patient with Cystic Fibrosis Genotype F508del/ F508del and Progressed Pulmonary Destruction on lumacaftor/ivacaftor

Cystic fibrosis (CF) is the most common inherited autosomal recessive disease in populations of white Caucasian descent. Diseases causative are mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR), the main transmembrane transporter for chloride and bicarbonate in the apical membrane of secretory and absorptive epithelial cells. Its physiological function is to regulate the respiratory and gastrointestinal surface liquid layer and, thereby, mucous viscosity and mucociliary clearance, but also to drive the alkalization required for digestion and absorption in the duodenum. In CF, progressive lung destruction triggered by chronic pulmonary infection with opportunistic pathogens such as Pseudomonas aeruginosa (PsA) is the leading cause of premature death.