What Is Cystic Fibrosis?

Cystic fibrosis As early as 1857, the article "Children's Songs and Swiss Game Yearbooks" warns that "Children die soon and their amount kisses, which makes it salty." This theory was confirmed by Paul di Sant'Agnese in 1953. He discovered that the victims of cystic fibrosis sweat had a very high salt concentration. This discovery of sweat test has replaced invasive methods for diagnosing people with cystic fibrosis and is increasingly used as a basis for diagnosing disease.

Cystic fibrosis is caused by so-called "cystic fibrosis transmembrane conductance regulatory factor" genes or defects in the CFTR gene. This gene controls the movement of water and salt in and out of body cells. A sudden mutation or a change in the CFTR gene may make the mucilage more viscous than expected. This abnormal mucus accumulates in various organs throughout the body. There are various defects affecting the CFTR gene. The type of defect is related to the severity of cystic fibrosis. Damaged genes are passed from parents to children. In order to develop cystic fibrosis, a child must inherit a copy of the gene from each parent. If they only inherit copies of that gene, they will not get sick. However, they will be carriers of defective genes, which means that they can pass genes to their own children.

Cystic fibrosis is an autosomal recessive disorder - that is, two defective genes (one for each parent) are needed to develop the disease. The gene thought to cause cystic fibrosis is called cystic fibrosis transmembrane conductance regulator or CFTR. This gene is on chromosome 7. The severity and extent of this disease vary widely among patients with cystic fibrosis. Typically, this condition results in an increase in the chloride transport defect and trauma across epithelial cells and the viscosity of body secretions, particularly secretions from the respiratory tract (ie, the lungs, throat) and pancreas. As a result, patients are prone to pancreatic dysfunction and repeated chest infections