Cystic Fibrosis is an autosomal recessive genetic disease, caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The CFTR gene encodes for the CFTR protein, which controls the movement of chloride ions in respiratory epithelium, pancreatic duct cells and sweat ducts. This prevents mucous lining the airways from becoming too thick, enables the secretion of bicarbonate ions from the pancreas to neutralise stomach acid and controls the tonicity of sweat.
Defects in the CFTR gene can result in either a dysfunctional or non-functional CFTR protein being expressed. Thick mucous in the respiratory tract increases the risk of serious infections, whilst the inability of the pancreas to secrete digestive enzymes into the GI tract can cause malabsorption and malnutrition.
It is also important to consider the impacts of cystic fibrosis on the child and their family. Regular medical care can disrupt a child’s education and affect their relationships with their peers and parents may also need support as caring for a child with cystic fibrosis can be demanding.
Below you will find an overview of the condition.