Abstract
Cystic Fibrosis (CF) is considered to be a serious autosomal recessive genetic multisystem disease. The usual presentation includes the upper and lower respiratory tract, sweat glands and the pancreas.
In general, the sweat test is the gold standard for diagnosis, even after the introduction of a newborn screening. The causal therapy is included among new treatment options - the use of a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator (Ivacaftor) in patients with the Celtic mutation G551D and an utilization interplay effect of a CFTR corrector with a CFTR potentiator (Lumacaftor in combination with Ivacaftor) in patients with CF who are homozygous for Phe508del CFTR mutation.
Causal treatment reduced the rate of pulmonary exacerbations, improved lung function and nutritional status. The high costs of causal therapy prevent its use in clinical practical.
Here, we review the experience of a causal treatment in three cases over the past 2.5 years. Physicians and medical staff should be aware about this causal treatment.