What is Cystic Fibrosis?
Cystic fibrosis is a congenital disease of the respiratory and digestive systems of the body. Two copies of faulty genes were passed down to the children, that is one copy from each parent. If a person only has one copy of the faulty cystic fibrosis genes, that person is considered a “carrier” but they do not have the disease.
This particular congenital disease affects the normal function of the cells that produce mucus, sweat, and digestive enzymes. Normally the secreted fluids will serve as a lubricant to various tissues and internal organs of the body to avoid it from getting dry. However, due to the presence of the faulty gene of the cystic fibrosis, the secreted fluids that supposedly a lubricant becomes thick and sticky causing the tubes, ducts, and passageways in the body to be clogged and blocked.
The most commonly affected internal organs are — lungs, liver, intestines, and pancreas. Cystic fibrosis poses a great danger to the life of a person for it may lead to malnutrition, infection, and respiratory failure. In fact, a person with this kind of disorder has a shorter lifespan.
The thick and viscous mucus causes difficulty in breathing and it’s not easy to cough it out of the lungs. The obstruction in the lungs caused by cystic fibrosis poses a high risk of lung infections as it provides the optimal conditions for the pathogens to grow. Possible lung infections may include pneumonia and bronchitis.
As to the impact in the liver, the cystic fibrosis contributes to the poor flow of the bile that may lead to scarring and inflammation of the liver causing damage to the surrounding tissue of the liver — “biliary fibrosis.”
The thick and sticky mucus also affects the normal pancreatic functions by hindering the proper breaking down of foods. The obstruction created by the mucus in the pancreas may potentially cause malnutrition ergo poor growth of the individual. And the malfunctioning of the pancreas brought about by the congenital anomaly has been associated as well with an increased risk of osteoporosis and diabetes.
The thickening of mucus in cystic fibrosis may also affect male fertility as it blocks the vas deferens — the tube that carries the sperm from the testes to the urethra.
Historically, cystic fibrosis has been correlated only to pulmonary disorder but in time, gastrointestinal manifestations are becoming profound. The gastrointestinal tract manifestations of cystic fibrosis are associated to thick and viscous mucus obstruction or blockage causing mucus inspissation (intestinal inflammation), dysmotility, constipation, meconium ileus (bowel obstruction), gastroesophageal reflux (GERD), distal intestinal obstruction syndrome (DIOS), and bacterial overgrowth of the small bowel.
Cystic fibrosis is a serious congenital disorder with potentially life-threatening consequences. Respiratory failure is the most profound cause of death in people with cystic fibrosis.
Up to the present, no cure has been established to beat cystic fibrosis. In fact, studies showed that about 30,000 people in the United States are affected by this congenital disease. And an approximate of 1,000 cases annually are diagnosed with cystic fibrosis. And in the given statistics, about 75% are children under two years old.
Signs and Symptoms
The signs and symptoms of cystic fibrosis may vary from person to person and depending on the severity of the condition.
The symptoms may also develop at different ages. It may appear at the infancy stage, others at the childhood age, sometimes after the onset of puberty, or even later in adult life. As time passes, the symptoms may either get better or worse depending on the individual response of the body against the congenital disorder.
Listed are the most common symptoms of cystic fibrosis, namely:
- Very salty-tasting skin due to higher salt content in sweat
- Poor growth
- Male infertility
The thick, viscous mucus associated with cystic fibrosis typically obstructs the passageways of the respiratory system — responsible for carrying air into and out of the lungs. This may result in the following symptoms:
- Recurrent Sinusitis
- Exercise intolerance
- Inflamed nasal passages or stuffy nose
- Persistent coughing that produces thick mucus or phlegm
- Shortness of breath especially during physical activity
- Frequent lung infections like bronchitis and pneumonia
- Nasal polyps or small, fleshy growths found in the nose
The production of abnormal mucus can be a blockage to the channels that carry the enzymes secreted by the pancreas to the small intestine. Absence of these digestive enzymes, the intestine will be prevented to absorb the necessary nutrients from food. This may result in the following symptoms:
- Frequent, foul-smelling, greasy, bulky stools
- Difficulty with bowel movement or constipation
- Nausea and vomiting
- A swollen abdomen
- Delayed growth in children
- Poor or loss of appetite
- Malnutrition, difficulty in weight gain in spite of good appetite in children
- Intestinal blockage for the newborn (meconium ileus)
All newborns in the United States are being screened and tested for the congenital disorder — cystic fibrosis. The physician will check for a sign of the cystic fibrosis disease in the newborn through genetic blood tests. This genetic blood test will confirm the presence of defective cystic fibrosis transmembrane conductance regulator (CFTR ) gene. The blood test will also check if the liver and the pancreas of the newborn is normally functioning.
To further established the presence or absence of the congenital anomaly, other extensive diagnostics may be performed, such as:
- Sweat Chloride Test
The sweat chloride test is the most common test performed to diagnose cystic fibrosis. It determines the concentration of chloride that is excreted in the sweat. The test is done by using a chemical that stimulates the sweat glands and makes the skin sweat when subjected to a mild electric current. The sweat is collected on a pad soaked in pilocarpine and then analyzed. A diagnosis of cystic fibrosis is made if the sweat is saltier than normal.
- Sputum Test
During a sputum test, a mucus sample from the patient is submitted. The specimen sample will be examined for any presence of lung infection. The bacteria present will also be identified to determine the appropriate prescription of antibiotics that will work best to treat the disease.
- Chest X-Ray
A chest X-ray is requested to determine any presence of swelling in the lungs or blockages in the respiratory passageways.
- CT Scan
A CT scan provides detailed images or pictures of the body by using a combination of X-rays taken from several different directions. These images are the internal structures of the internal organs such as the liver and pancreas, making it possible to assess the extent of organ damage caused by cystic fibrosis.
- Pulmonary Function Tests (PFTs)
Pulmonary function tests (PFTs) can assess whether the lungs are properly working. The tests also measure the amount of air that can be inhaled and exhaled. It also checks on the lungs as to its transport of oxygen to the rest of the body. Any functional anomalies established in this test may indicate cystic fibrosis.
- Immunoreactive Trypsinogen (IRT) Test
The immunoreactive trypsinogen (IRT) test is a standard newborn screening test that will check for an abnormal level of the protein in the blood called — immunoreactive trypsinogen (IRT). An increased level of immunoreactive trypsinogen (IRT) may indicate the presence of cystic fibrosis. However, further testing is required to confirm the diagnosis.