Feature: Newborn Screening for Cystic Fibrosis

Cystic Fibrosis is an autosomal recessive disease affecting the exocrine glands of the lung, liver, pancreas and intestines. It leads to a diverse range of clinical problems. Although most patients have multiple organs involved, pulmonary disease is the principal cause of both morbidity and mortality in the majority of patients. Cystic Fibrosis is the result of abnormalities in the gene that codes for the cystic fibrosis transmembrane conductance regulator (CFTR). This membrane glycoprotein is involved in the regulation of ion flux across the cell surface membrane, including chloride channel activity. The abnormally thick mucus that is the ultimate result of abnormalities in CFTR results in recurrent lung infections, decreased pancreatic enzymes, infertility and other clinical issues(2). Treatments for cystic fibrosis patients include: chest physiotherapy, pancreatic enzymes, vitamin supplements, mucolytics, antibiotics that can be given by inhalation, orally or intravenously, and more recently, CFTR-modifying medications for some patients.