Cystic Fibrosis | Symptoms Causes and More

Cystic Fibrosis

Overview: Cystic Fibrosis

Cystic Fibrosis (CF) is an inheritable disease that damages the lungs, digestive system, and various other organs.

Cystic fibrosis is a condition that affects the cells which produce sweat, mucus as well as digestive juices. The secreted fluids are usually smooth and thin. However, in those with CF, the defective gene results in the secretions becoming thick and sticky. Rather than serving as lubricants block ducts, tubes, and passageways, especially the pancreas and lungs.

While cystic fibrosis can be progressive and requires ongoing medical attention, people suffering from CF usually are capable of attending schools and work. They generally have higher health than those who suffer from CF used to have in the past. Advancements in diagnosis and treatment mean that people suffering from CF are now living into their mid-to-late 30- to 40-years old, while some have reached their 50s.

what are the symptoms of cystic fibrosis?

Within the U.S., because of screening for newborns, the condition can be diagnosed in the very first few months of life before symptoms begin to manifest. However, those born before the screening for newborns became available might never be identified until symptoms and signs of CF appear.

Cystic Fibrosis signs and symptoms are different, depending upon the extent of the condition. Even for the same person the symptoms can become more severe or improve with time. Many people do not show symptoms until the age of 15 or even adulthood. Individuals who do not receive a diagnosis until they reach adulthood typically have milder diseases which makes them more likely to suffer from atypical symptoms, like frequent flare-ups of an inflamed pancreas (pancreatitis) or infertility, as well as frequent pneumonia.

Patients with cystic fibrosis experience an elevated level of sweat salt. Parents are often able to feel salty as they hug their kids. Many of the other symptoms and signs associated with CF affect the respiratory system and the digestive system.

Signs and symptoms of respiratory illness

Cystic Fibrosis is characterized by sticky and thick mucus that blocks the tubes that allow air to move into or out of the lungs. It can cause symptoms, such as:

  • A chronic cough that causes dense mucus (sputum)
  • Wheezing
  • Exercise intolerance
  • Repeated lung infections
  • Nasal passages that are inflamed or a nasal congestion
  • Sinusitis recurrent

The signs and symptoms of digestion

The mucus’s thick consistency can hinder the passage of digestive enzymes from the pancreas and into your small intestine. Without these digestive enzymes, your intestines don’t have the capacity to absorb all the nutrients present in the food you consume. The result can be:

  • Stools that smell foul, greasy, and greasy
  • Weight gain is not optimal and growth slows
  • Intestinal obstruction, especially in infants (meconium ileus)
  • Constipation that is severe or chronic can cause the need to strain frequently to eliminate stool, eventually leading to a portion of the rectum extending beyond the anus (rectal prolapse)

When should you see a doctor?

Should you suspect that your kid exhibits symptoms of cystic fibrosis or if someone in your family suffers from CF discuss with your physician about the possibility of testing for the condition. Find a doctor who is familiar with CF.

Cystic fibrosis demands consistent regular check-ups with your physician at least every 3 months. Talk to your doctor if have any symptoms that are becoming worse or new for example, the production of more mucus than normal or an alteration in the mucus’s color, lack of energy or weight gain, or excessive constipation.

Get medical attention immediately If you’re sneezing blood, experience chest pain, difficulty breathing, or are experiencing severe stomach discomfort and abdominal dilation.

what causes cystic fibrosis?

In cystic fibrosis, there is a mutation (mutation) in one of the genes called the cystic fibrosis transmembrane conductance regulator (CFTR) gene that changes a protein that regulates the movement of salt inside the cells and out. As a result, sticky, thick mucus is produced in the digestive, respiratory, and reproductive systems, as well as an increase in salt levels in sweat.

Numerous different types of defects can be found in the genes. The type of variation is correlated with its severity. problem.

Children must have an identical copy of this gene from both parents in order to be able to develop the condition. If they inherit just one gene, they will not be diagnosed with cystic fibrosis. However, they could be carriers and might transfer the gene onto their children.

Risk factors

Since cystic fibrosis is an inheritable disorder and is passed down through families, and therefore families are an important risk factor. While CF can be found in any race but it’s more prevalent in whites of Northern European ancestry.


The complications of cystic fibrosis may affect the digestive, respiratory and reproductive systems and also other organs.

The respiratory system is a source of complications

  • Airways damaged (bronchiectasis). Cystic Fibrosis is one of the main causes of bronchiectasis. It is which is a chronic lung disorder that results in abnormally widening and scarring the airways (bronchial tubes). This can make it difficult to transport air in or out of the lung, and remove mucus from the bronchial tubes.
  • Chronic diseases. Mucus thick in the sinuses and lungs provides the perfect breeding ground for fungi and bacteria. Patients with cystic fibrosis can typically suffer from respiratory infections like bronchitis, sinuses, and pneumonia. Infections caused by bacteria that are intolerant to antibiotics and are difficult to treat are frequent.
  • Nasal growths (nasal Polyps). Since the lining of the nose is irritated and swollen, it is possible to form soft, fleshy growings (polyps).
  • Sucking up liquid (hemoptysis). Bronchiectasis may occur near blood vessels that line the lung. The combination of damage to the airways and infection may result in the coughing up of blood. It is usually the smallest quantity of blood however it could be life-threatening.
  • Pneumothorax. In this type of condition air leaks into the space which separates the lung and chest wall. In this case, a portion of the entire lung is collapsed. This is more frequent for people with cystic fibrosis. Pneumothorax may cause abrupt chest pain and breathlessness. Patients often experience an unsettling sensation in their chest.
  • Respiratory failure. As time passes, cystic fibrosis can harm lung tissue to the extent that it ceases to function. Lung function typically gets worse and can eventually turn life-threatening. Respiratory problems are the most frequent reason for death.
  • Acute exacerbations. Cystic fibrosis sufferers may suffer from worsening respiratory symptoms, like coughing more mucus or breathing problems. This is referred to as an acute exacerbation, and it is treated with antibiotics. Treatment may be offered at home, however, hospitals may be required. Reduced energy levels and weight loss are also common in the course of exacerbations.

Digestive system issues

  • Nutritional deficiencies. Mucus that is thick can block tubes that transport digestive enzymes from the pancreas and digestive tract. If you don’t have these enzymes in your system, it won’t be able to absorb fats, protein, or fat-soluble vitamins. As a result, you don’t get enough nutrients. This could lead to an inefficient growth process as well as weight loss and inflammation of the pancreas.
  • cystic fibrosis-related Diabetes. The pancreas makes insulin, which is what your body requires to make use of sugar. Cystic Fibrosis can increase the likelihood of developing diabetes. About 20% of adolescents and 40 or more adults suffering from CF suffer from diabetes.
  • Liver disease. The tube that delivers the bile out of the gallbladder and your liver towards your small intestinal tract could be blocked and damaged. This could cause liver issues like jaundice or fatty liver disease, as well as cirrhosis, and even gallstones.
  • Intestinal obstruction. Intestinal blockage is a possibility for those suffering from cystic fibrosis of all ages. Intussusception, an illness where a section of the intestine slide into an adjacent part of the intestine as an erect telescope, is a possibility.
  • Distal intestinal obstruction syndrome (DIOS). DIOS is a partial or complete obstruction at the point where the small intestine joins the large intestinal. DIOS is a medical emergency that requires immediate attention.

Problems with the reproductive system

  • Infertility among men. The majority of men with cystic fibrosis suffer from infertility due to the fact that the tube connecting the testes to the prostate gland (vas deferens) is either blocked by mucus or completely missing. Certain procedures for fertility and surgery may allow those who suffer from CF to be biological fathers.
  • Women with lower fertility. While women suffering from cystic fibrosis are less fertile than the rest of us but they can still be able to get pregnant and be successful in their pregnancy. But, pregnancy may exacerbate the symptoms and signs of CF therefore, it is important to discuss any potential dangers with your physician.

Other issues

  • Thinner bones (osteoporosis). Patients with cystic fibrosis are more likely to become a risky thinning of bones. They could also suffer from joint discomfort, arthritis, and muscular pain.
  • Dehydration and electrolyte imbalances. Since people suffering from cystic fibrosis sweat saltier and a higher mineral balance in their blood can be disrupted. This puts them at risk of being dehydrated, especially during workouts or during hot temperatures. Some signs and symptoms include an increase in blood pressure, tiredness, and lower blood pressure.
  • Mental health issues. A chronic illness for which there is no cure could cause anxiety or depression, as well as anxiety.


Should you discover that either you or your spouse has relatives who have cystic fibrosis, both could opt to undergo genetic testing prior to having children. The test carried out in a laboratory on an individual’s blood sample will help you determine the risk to have a baby who has CF.

If you’re pregnant already when the test suggests that your baby is at risk of developing cystic fibrosis (CF), your doctor may perform additional tests for your developing child.

Genetic testing isn’t right for all. If you are considering being tested, you must speak with a genetic counselor regarding the psychological effects that the test results could have.

How cystic fibrosis is diagnosed?

To determine if you have cystic fibrosis doctors usually conduct an exam of the body, examine your symptoms, and run a variety of tests.

Screening and diagnosis of newborns

Every state within the U.S. now routinely screens newborns for cystic fibrosis. A diagnosis early implies that treatment can begin right away.

In one test for screening, an individual’s blood sample is examined for elevated levels of a chemical known as immunoreactive trypsinogen (IRT) that is released through the pancreas. The baby’s IRT levels could be elevated due to an unplanned birth or difficult birth. Therefore, additional tests could be required to confirm the diagnosis of cystic Fibrosis.

To determine if a baby is suffering from cystic fibrosis, can also conduct a sweat test for cystic fibrosis when the child is at least two weeks old. A chemical that produces sweat can be applied to a tiny part of the skin. The sweat is later taken to test it and check if it’s saltier than normal. Tests conducted at a health center that has been accredited with the Cystic Fibrosis Foundation help ensure accurate results.

Doctors might also recommend genetic tests to identify specific defects in the gene that cause cystic fibrosis. Genetic tests can be utilized along with checking the IRT amounts to verify the diagnosis.

The testing of the older kids as well as adults

Cystic fibrosis tests are advised for older children as well as adults who were not screened at birth. Your physician may recommend sweat and genetic tests for CF when you experience frequent periods of inflamed nasal polyps or pancreas as well as chronic lung or sinus inflammation, bronchiectasis, male infertility.


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