Answer: Cystic Fibrosis
Explanation:
Cystic fibrosis (abbreviated CF) is an autosomal recessive genetic disease that mainly affects the lungs, and to a lesser extent the pancreas, liver and intestine, causing an abnormally thick, sticky mucus to build up in these areas. This mucus collects in the airways of the lungs and pancreas. The main cause of morbidity and mortality is pulmonary involvement, which accounts for 95% of deaths, mainly due to repeated infections caused by bronchial obstruction due to the secretion of very thick mucus.
This build up of mucus causes life-threatening lung infections and serious digestive problems. It is one of the most common types of chronic lung disease in children and young adults, and is a life-threatening disorder; patients often die from lung infections due to <em>Pseudomonas</em> or <em>Staphylococcus</em>.
<u>It is a hereditary disease produced by a mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This protein is involved in the passage of chlorine ion through cell membranes and its deficiency alters the production of sweat, gastric juices and mucus. </u>The disease develops when neither allele is functional. Over 1500 mutations have been described for this disease, most of which are small deletions or point mutations; less than 1% are due to mutations in the promoter or chromosomal rearrangements. However, many people carry the CF gene, but do not have any symptoms. This is because a person with this disease must inherit 2 defective genes, 1 from each parent.
<u>There is no curative treatment, however there are treatments that allow the improvement of symptoms and extend life expectancy. In severe cases, the worsening of the disease may necessitate a lung transplant.</u>
