Cystic fibrosis (CF) is a multiorgan disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Approximately 90% of the morbidity and mortality are caused by pulmonary involvement. The mean life expectancy of patients with CF in 2020 was more than 52 years in Germany. The introduction of neonatal screening for CF and the development of a causally acting CFTR modulator treatment have clearly improved the prognosis of these patients. As an introduction, this article describes important aspects of CF in this context in order to go into details of the CF neonatal screening which was introduced in Germany in 2016.
- Sommerburg, O.
- Wielpütz, M. O.
Keywords
- Infant, Newborn
- Humans
- *Cystic Fibrosis Transmembrane Conductance Regulator/genetics
- *Cystic Fibrosis/diagnosis
- Neonatal Screening
- Mutation
- Precision Medicine
- CFTR modulator treatment
- Cystic fibrosis
- Imaging
- Lungs
- Multiorgan disease
