The pathology of cystic fibrosis is a defect in a gene that affects the production of mucus. The defect in this gene varies in severity. Defective CFTR impedes release of chloride and increases reabsorption of sodium and water across epithelial cells. This results in reduced fluid lining the cells leading to dry mucus that is thick and hard to clear, because the viscosity of the mucus inhibits the cilia. The mucus traps bacteria and leads to infection and inflammation. The inflammation causes damage to the lung tissue over time. The lungs become less elastic and have impaired gas exchange causing end-stage lung disease and early death. Many other organs are affected by this disease such as, pancreas and other digestive organs. The mucus in these organs also becomes thick due to this disease and decreases their function as well.
Cystic Fibrosis is a genetic disordered, which means that it is inherited trait. A child must receive two copies of the gene in order to inherit the trait. This means that both parents must carrier at least one gene of the disease. The parents might not even know their child is at risk for the disease. If a parent is a carrier they will not show any symptoms of the disease. The mutation of this gene affects the protein that regulates the movement of salt in and out of cells. The result is thick mucus in the digestive, respiratory and reproductive system.
Cystic fibrosis is just one of many diseases that a newborn is screened for. A blood sample is taken to assess for high levels of immunoreactive trypsinogen, which is released by the pancreas. Other tests are needed to confirm the diagnosis. A sweat test is conducted to assess for high salt content. DNA can also be assessed for gene defects that cause cystic fibrosis. Older adults and children may also be tested. They would receive a sweat test as well as being assessed for symptoms of cystic fibrosis such as nasal polyps, chronic sinus or lung infections, bronchiectasis or male infertility. Early identification of the disease is important in treatment. It is important to know if this disease has ever affected anyone in your family history due to its genetic origin. Environmental factors that can affect this disease are things such as secondhand smoke and lack of meeting the diet needs of someone with CF.
It is imperative to be able to recognize multiple symptoms of cystic fibrosis. It’s a progressive disease so the severity varies patient to patient. This means that the symptoms may not be as obvious in some patients as others. Distinctive symptoms in the respiratory system are wheezing, thick mucus producing cough, as well as a history of recurring respiratory infections. The patient may have difficulty on exertion or fatigue, especially if the disease is in the later stages of progression. The changes in gastrointestinal function may lead some patients to have difficulty gaining weight even with a proper appetite. GI symptoms include greasy stools, constipation, inflammation of the pancreas, salty skin.
The main treatment performed by a physical therapist is chest physical therapy or postural drainage. This includes percussing the back, vibration, deep breathing, and coughing to promote airway clearance. This technique loosens mucus and allows it to be moved to larger airways to be coughed up. Doing this on a regular basis will enable the patient to breathe easier and will decrease the risk of infection by decreasing the buildup of bacteria trapping mucus in the lungs. They often receive antibiotics to treat and prevent infections. Mucus thinning drugs are used to help the patient cough it up. Bronchodilators are used to keep the airway open by relaxing bronchial tubes. Other management techniques include a diet with extra vitamins and minerals, supplemental digestive enzymes, and high in calories and fats. Fitness is also an important aspect because activity improves lung function.