Introduction: Cystic Fibrosis (CF) is an autosomal recessive disease affecting up to 90,000 people worldwide. Approximately 73% of patients are homozygous for the F508del cystic fibrosis transmembrane conductance regulator...
Containing relevant Learning Zones, guidelines, trials and news.
Lumacaftor-ivacaftor is indicated for treatment of cystic fibrosis (CF) in patients homozygous for the Phe-508del cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.
At the basic level, we know the genetic cause of cystic fibrosis: it is an autosomal recessive disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR).
Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show residual function and...
Malnutrition is one of the major burdens of disease in cystic fibrosis. The prevention of malnutrition remains a priority throughout the life of a patient with cystic fibrosis.
The past six decades have seen remarkable improvements in health outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young children. However, although life expectancy for people with cystic fibrosis...
Purpose of review: Due to continuous development of new drugs and better treatment strategies, survival of patients with cystic fibrosis has changed dramatically.
Newborn screening for cystic fibrosis (CF) has become a widely accepted and endorsed public health strategy in economically developed countries, although there is little consensus on optimal screening methods and gene panels.
Pain is a complex, multidimensional process that negatively affects physical and mental functioning, clinical outcomes, quality of life, and productivity for cystic fibrosis (CF) patients. CF is an inherited multi-system disease that requires...