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).
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.
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...
The risk of vitamin E deficiency is of primary concern in cystic fibrosis patients. However, early diagnosis and routine vitamin E supplementation can lead to its normal or even high levels.
Purpose of review: Due to continuous development of new drugs and better treatment strategies, survival of patients with cystic fibrosis has changed dramatically.
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 electrolyte composition of sweat secreted in response to a standard mild thermal stimulus was found to be abnormal in 43 patients with cystic fibrosis of the pancreas.
In this review, we describe a path for translation of gene editing into therapy for cystic fibrosis (CF). Cystic fibrosis results from mutations in the CFTR gene, with one allele predominant in patient populations.
Cystic fibrosis is the most common genetically determined, life-limiting disorder in populations of European ancestry.
Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and an evolving understanding of CF genetics have prompted a reconsideration of the diagnosis criteria.