Cystic fibrosis with heterozygous F508del mutation in CFTR gene

Cystic fibrosis with a heterozygous F508del mutation in the CFTR gene describes an autosomal recessive multisystem disorder in patients who possess a single copy of the class II F508del variant paired with another disease-causing mutation on the second CFTR allele This genetic defect disrupts epithelial chloride and bicarbonate transport, primarily damaging the respiratory, gastrointestinal, hepatobiliary, and reproductive tracts Pathophysiologically, the deletion of phenylalanine at position 50...

Cystic fibrosis with a heterozygous F508del mutation in the CFTR gene describes an autosomal recessive multisystem disorder in patients who possess a single copy of the class II F508del variant paired with another disease-causing mutation on the second CFTR allele Pathophysiologically, the deletion of phenylalanine at position 508 impairs protein folding and trafficking to the apical plasma membrane, causing viscous secretions, impaired mucociliary clearance, chronic sinopulmonary infections, pr...

Cystic fibrosis with a heterozygous F508del mutation in the CFTR gene describes an autosomal recessive multisystem disorder in patients who possess a single copy of the class II F508del variant paired with another disease-causing mutation on the second CFTR allele

This genetic defect disrupts epithelial chloride and bicarbonate transport, primarily damaging the respiratory, gastrointestinal, hepatobiliary, and reproductive tracts

This genetic defect disrupts epithelial chloride and bicarbonate transport, primarily damaging the respiratory, gastrointestinal, hepatobiliary, and reproductive tracts Pathophysiologically, the deletion of phenylalanine at position 508 impairs protein folding and trafficking to the apical plasma membrane, causing viscous secretions, impaired mucociliary clearance, chronic sinopulmonary infections, progressive bronchiectasis, and exocrine pancreatic insufficiency