Cystic fibrosis (CF) is a disorder caused by mutations in the CFTR gene, which causes a thick mucus to build up in the lungs, pancreas, liver, and intestine. This can cause inflammation and damage, leading to scarring (fibrosis).
The symptoms of CF begin to develop soon after birth. They can vary in severity significantly between patients, and may improve or worsen with time. A patient may not experience all of the symptoms of CF, and some symptoms may not manifest until adolescence or adulthood.
Respiratory system symptoms
The buildup of mucus can block the airways and create an ideal environment for bacteria to grow. This can result in frequent chest infections that can cause fevers. Common symptoms associated with blocked airways include frequent coughing that produces a thick, sometimes bloody spit, wheezing, and shortness of breath.
CF patients often have chest infections that do not respond well to standard antibiotics, caused by bacteria called Pseudomonas. Other common infections include sinusitis, bronchitis, and pneumonia. A patient should be closely monitored and treated for infections because repeated infections can lead to long-term lung damage.
Growths or swelling in the nose, called nasal polyps, also may develop. This can block the sinuses and lead to an even greater chance of infection.
Digestive system symptoms
The mucus produced by CF patients can also affect the digestive system. It can cause intestinal blockages, particularly in newborns, a condition called meconium ileus. This may need to be removed with surgery.
The mucus alters the environment in the intestines. This restricts the activity of digestive enzymes, preventing food from being properly broken down and absorbed, especially fat and proteins. This can cause:
- Diarrhea, severe constipation, or foul-smelling and greasy stools
- Malnutrition, leading to poor weight gain and growth
- Liver problems, caused by inflammation of mucus buildup in the bile ducts
- Pancreatitis, or inflammation of the pancreas
Severe constipation can lead to rectal prolapse where the end of the large intestine, or rectum, protrudes outside of the anus due to frequent straining. This may require surgery to fix in extreme cases.
Reproductive system symptoms
Puberty can often be delayed in CF patients, and infertility is a common problem.
Males are often born without the vas deferens, a tube that delivers sperm from the testicles, or this tube can become blocked by mucus. However, because sperm production is generally unaffected, it is possible for a male CF patient to still have biological children with assistive reproductive technology.
Women will frequently experience irregular periods due to poor nutrition and may have problems conceiving. This can be exacerbated by complications such as when mucus blocks the cervix. However, most women with CF can become pregnant.
The sweat of CF patients tends to have higher-than-normal salt content. This is caused by a mineral imbalance in the blood, which can lead to dehydration, increased heart rate, tiredness, weakness, decreased blood pressure, and in extreme cases death.
CF can cause low bone density and deformities of the fingers and toes (clubbing). Low bone density combined with other symptoms such as repeated infections and lack of physical activity may lead to osteoporosis and osteopenia.
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