Klin Padiatr 2019; 231(05): 271-273
DOI: 10.1055/a-0973-8565
Short Communication
© Georg Thieme Verlag KG Stuttgart · New York

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

Schwangerschaft einer F508del homozygoten CF-Patientin mit fortgeschrittener Lungendestruktion unter Therapie mit lumacaftor/ivacaftor
Jochen G. Mainz
1   Cystic Fibrosis Centre / Ped. Pneumology, University of Jena, Jena, Germany
2   Pediatric Pulmonology / Cystic Fibrosis, Brandenburg Medical School (MHB), Brandenburg an der Havel, Germany
,
Ruth Katharina Michl
1   Cystic Fibrosis Centre / Ped. Pneumology, University of Jena, Jena, Germany
,
Natalie Beiersdorf
1   Cystic Fibrosis Centre / Ped. Pneumology, University of Jena, Jena, Germany
,
Michael Lorenz
1   Cystic Fibrosis Centre / Ped. Pneumology, University of Jena, Jena, Germany
,
Uwe Schneider
3   Obstetrics, University of Jena, Jena, Germany
,
Tanja Groten
3   Obstetrics, University of Jena, Jena, Germany
,
Anke Jaudszus
1   Cystic Fibrosis Centre / Ped. Pneumology, University of Jena, Jena, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
13 August 2019 (online)

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.