Case Report on Cystic Fibrosis

Cystic fibrosis is a genetic disorder that primarily affects the lungs and digestive system. It is caused by mutations in the CF trans-membrane conductance regulator gene, which encodes for a protein involved in the regulation of salt and water movement across cell membranes. This mutation leads to the production of thick, sticky mucus that can clog the airways and obstruct the pancreas. Top of Form

Research efforts have significantly intensified since the identification of the CF trans-membrane conductance regulator gene, which harbors over 2000 distinct mutations. CF trans-membrane conductance regulator modulators, particularly transformative for patients with prevalent mutations like F508del, have the potential to prevent significant complications if initiated early in childhood. However, for individuals with rare CF trans-membrane conductance regulator mutations, the development of a treatment strategy remains to be established.