Causes of Cystic Fibrosis
A defect in the CFTR gene causes cystic fibrosis. This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work wel.
The initial symptoms of cystic fibrosis vary by the stage that the person is in but the most common symptoms is thick, sticky mucus and very salt sweat.
Stages of cystic fibrosis
The initial symptoms are triggered when the body oxygen level is below 30 s. This stage is accompanied by the appearance and dominance of pathogens in the GI tract with light symptoms in pulmonary and hormonal areas.
The 20 s threshold for the body-oxygen test as a very significant number. It corresponds to appearance of numerous physiological and biochemical abnormalities in the human body, including Cell hypoxia, suppression of the immune system, problems with protein metabolism and synthesis of various fundamental substances, including hormones and neurotransmitters and many others. In relation to the airways, overbreathing causes chronic inflammation, mucoliliary dysfunction, generation of extra mucus, appearance of allergic reactions and bronchoconstruction.
Increased inflammation and pathological load on the human organism due to infections further intensify breathing in people with cystic fibrosis. With less than 10 s CP, even human blood does not resist the spread of various infections and the whole clinical picture deteriorates quickly. Involvement in the respiratory system becomes progressive: bronchitis and bronchiolitis transform into bronchiectasis
With less than 5 s CP, patients with cystic fibrosis enter into the zone where they fight to live. Severe alveolar hyperventilation leads to critically low CO2 levels in airways with frequent development of our pulmonale which is high blood pressure in the pulmonary arteries and right heart overload.
Who is at risk of developing cyistic fibrosis?
Cystic fibrosis is a genetic disorder. It is an autosomal recessive disease. This means that to get the disease you must inherit the changed (mutated) gene from both parents. If a person inherits the changed gene from only one parent, he or she will not get cystic fibrosis but will be a carrier of the disease. Carriers may pass the defect on to their children. This disease is more common to Caucasians of the Northern European descent, while the disease is less common to African Americans and Asian Americans.
How many people are currently affected by this disorder?
In the United States about 30 thousand people, but worldwide nearly 70 thousand.
Famous personS who have/had the disease.
Dean Barnett, a blogger and radio host, frequently discussed his struggles with cystic fibrosis. He died at age 41 from complications from this disease. Also Lisa Bentley, a triathlete, despite being diagnosed with cystic fibrosis, has won 11 iron man awards for different types of competitions. She is still alive today. Other famous people who have/had the disease are Gunnar Esiason, Travis Flores, Bob Flanagan, and Frankie Abernathy.
Treatments that have been tried (past/present)
Airway clearance techniques loosen mucus. Clearing airways may help decrease lung infections.
CFTR modulator therapies
CFTR (Cystic Fribrosis transmembrane conductance regulator) therapies are made to correct the function of the defective protein made by the CF gene.
Treats key symptoms of cystic fibrosis and improves quality of life.
Medications help keep your lungs clear, prevent/fight diseases.
Can improve your quality of life with cystic fibrosis.
Help people with cystic fibrosis, maintain health, making for a longer life.