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.
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