Cystic Fibrosis (CF) is an autosomal recessive genetic disease that affects the respiratory, digestive and reproductive system caused by Cystic Fibrosis Transmembrane conductance Regulator (CFTR ) gene. Cystic Fibrosis inherits a defective gene in chromosome 7 called CFTR .
Mutations in CFTR gene cause cystic fibrosis.More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Cystic Fibrosis caused by a faulty gene that controls the movement of salt and water in and out of the cells. Cystic Fibrosis people have high amount of salt in the sweat.
About 45% of people with CF are over 18 and rest are children. About 75 % people are diagnosed by age 2. People with CF have two inherited copies of defective gene. Every parents contribute two CFTR genes in a person. When a faulty CFTR gene inherits from both the parent to any child they develop Cystic Fibrosis. Severity of the disease varies from person to person
There is no cure for CF; but it is treatable. Treatment includes providing adequate diet and nutrition, aerobic exercises help loosen the mucus, chest clapping can be treated by chest physical therapy, pancreatic enzyme supplements help improve the absorption of vital nutrients, inhale antibiotics to kill the bacteria that cause lung infections.
In gene therapy (treatment currently in clinical trials) healthy CFTR gene is inserted into the lungs to correct the defective gene.
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