Basic pathology in cystic fibrosis is
Ref Robbins 9/e p222 Cystic fibrosis is an autosomal recessive disorder affecting the lungs, pancreas, intestines, sweat ducts and liver, due to an abnormal salt transpo across the apical border of epithelial cells. Mutations in the CF underlying gene, the cystic fibrosis transmembrane conductance regulator (CFTR) gene, result in most cell types in an misprocessing so that little of the protein reaches the membranes. In case of clinical suspicion and/or doubtful sweat test results, mutation analysis can suppo the diagnosis of CF. Also carrier detection is offered. PATHOPHYSIOLOGY CF is caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene. The CFTR protein produced by this gene regulates the movement of chloride and sodium ions across epithelial cell membranes.Figure 1).Pseudomonas, Haemophilus influenza, and Staphylococcus aureus. These pathogens cause an overwhelming inflammatory response. Ultimately, chronic infection and this repetitive inflammatory response can lead to airway destruction.CF is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly normal. CFTR is involved in production of sweat, digestive fluids, and mucus. When the CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at bih takes place in some areas of the world.
Defect in the transpoation of chloride across epithelia
Defect in transpo of sodium across epithelia
Defect in transpo of potassium across epithelia
Defect in transpo of bicarbonate across epithelia
General anatomy