Symptoms and Causes of Cystic Fibrosis | Physiotherapy

Cystic fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is a genetic disease that causes serious damage to the lungs, gastrointestinal system, and other organs of the body.

Cystic fibrosis disturbs the cells that produce mucus, sweat, and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a faulty gene makes secretions sticky and thick. slightly than stand-in as lubricants, the secretions plug the tubes, ducts, and ducts, especially within the lungs and pancreas.

Symptoms of cystic fibrosis

In the US, thanks to newborn screening, cystic fibrosis is often diagnosed during the primary month of life, before symptoms appear. But people born beforehand newborn screening was existing might not be diagnosed until cystic fibrosis signs and symptoms appear.

The signs and symptoms of cystic fibrosis vary, counting on the severity of the disease. Even within the same person, symptoms can worsen or better over time. Some people might not experience symptoms until adolescence or adulthood. people that aren’t diagnosed until adulthood tend to possess milder disease and are more likely to possess atypical symptoms, like recurrent episodes of inflammation of the pancreas (pancreatitis), infertility, and recurrent pneumonia.

Respiratory signs and symptoms

The thick, sticky mucus related to cystic fibrosis clogs the tubes that carry air in and out of the lungs. this will cause signs and symptoms such as:

  • A persistent cough that harvests thick mucus (sputum)
  • Wheezing
  • Exercise intolerance
  • Repeated lung infections
  • Inflamed nasal passages or nasal congestion
  • Recurrent sinusitis

Digestive signs and symptoms

Thick mucus also can block the tubes that carry digestive enzymes from the pancreas to the tiny intestine. Without these digestive enzymes, your intestines cannot fully absorb the nutrients from the food you eat. The result’s usually:

  • Greasy and foul-smelling stools
  • Little weight gain and growth
  • Intestinal blockage, especially in newborns (meconium ileus)
  • Chronic or severe constipation, which can include frequent straining when trying to possess a movement, eventually causing a part of the rectum to protrude out of the anus (rectal prolapse)

Causes of cystic fibrosis

In cystic fibrosis, a defect (mutation) during a gene, the CF transmembrane conductance regulator (CFTR) gene, changes a protein that regulates the movement of salt in and out of cells. The result’s thick, sticky mucus within the respiratory, digestive, and reproductive systems, also as increased salt in sweat.

Many different defects can occur within the gene. the sort of point mutation is related to the severity of the condition.

Children got to inherit one copy of the gene from each parent to possess the disease. If children inherit just one copy, they’re going to not develop CF. However, they’re going to be carriers and will pass the gene on to their own children.

Risk factors for cystic fibrosis

Because cystic fibrosis is a genetic disease, it runs in families, so case history may be a risk factor. Although CF occurs altogether races, it’s commonest in the White race of northern European descent.

Diagnosis of cystic fibrosis

To diagnose cystic fibrosis, doctors usually do a physical exam, review your indications, and conduct several tests.

Newborn screening and diagnosis

Every state within the U.S. now routinely screens newborns for CF. Early diagnosis means treatment can begin immediately.

In one screening test, a blood sample is checked for above normal levels of a chemical called immune reactive trypsinogen (IRT), which is released by the pancreas. A newborn’s IRT levels could also be high due to premature birth or a stressful delivery. For that reason, other tests could also be needed to verify a diagnosis of CF.

To evaluate if an infant has CF, doctors can also conduct a sweat test once the infant is a minimum of 2 weeks old. A sweat-producing chemical is applied to a little area of skin. Then the sweat is collected to check it and see if it’s saltier than normal. Testing done at a care center accredited by the CF Foundation helps ensure reliable results.

Doctors can also recommend genetic tests for specific defects on the gene liable for CF. Genetic tests could also be utilized in addition to checking the IRT levels to verify the diagnosis.

Testing of older children and adults

Cystic fibrosis tests could also be recommended for older children and adults who weren’t screened at birth. Your doctor may recommend genetic and sweat tests for cystic fibrosis if you’ve got frequent bouts of an inflamed pancreas, nasal polyps, chronic sinus or lung infections, bronchiectasis, or male infertility

Treatment for cystic fibrosis

There is no cure for cystic fibrosis, but treatment can ease symptoms, reduce complications, and improve quality of life. Close monitoring and early, aggressive intervention is suggested to slow the progression of CF, which may cause an extended life.

Handling CF is complex, so reflect getting treatment in the middle with a multispecialty team of doctors and medical professionals trained in CF to usage and treat your condition.

The goals of treatment include:

  • Preventing and controlling infections that occur within the lungs
  • Removing and loosening mucus from the lungs
  • Treating and preventing intestinal blockage
  • Providing adequate nutrition


Options include:

  • Medications that focus on gene mutations, including a replacement medication that mixes three drugs to treat the foremost common mutation causing cystic fibrosis and is taken into account a serious achievement in the treatment
  • Antibiotics to treat and stop lung infections
  • Anti-inflammatory medications to reduce swelling within the airways in your lungs
  • Mucus-thinning drugs, like hypertonic saline, to assist you to cough up the mucus, which may improve lung function
  • Exhaled medications called bronchodilators which will help keep your airways open by peaceful the muscles around your bronchial tubes
  • Oral pancreatic enzymes to assist your alimentary canal to absorb nutrients
  • Stool softeners to stop constipation or bowel obstruction
  • Acid-reducing medications to assist pancreatic enzymes work better
  • Specific drugs for diabetes or disease, when appropriate

And others are:

  • Medications that focus on genes
  • Airway clearance techniques
  • Pulmonary rehabilitation
  • Surgical and other procedures


If you or your partner have close relatives with cystic fibrosis, both of you’ll prefer to have genetic testing before having children. The test, which is completed during a laboratory on a blood sample, can help determine your risk of getting a toddler with CF.

If you’re already pregnant and genetic testing shows that your baby could also be in danger for CF, your doctor may perform additional tests on your developing child.

Genetic testing isn’t for everybody. Before deciding to be tested, you ought to speak with a genetic counselor about the impact the test results might carry.


Complications of cystic fibrosis can affect the respiratory, digestive, and reproductive systems, also as other organs.

Complications of the system respiration

  • Damaged airways (bronchiectasis). cystic fibrosis is one of the leading causes of bronchiectasis, a chronic lung condition with abnormal widening and scarring of the airways (bronchial tubes). This makes it difficult for air to urge in and out of the lungs and to get rid of mucus from the bronchial tubes.
  • Chronic infections. The thick mucus within the lungs and sinuses provides a perfect tract for bacteria and fungi. People with CF can often have sinus infections, bronchitis, or pneumonia. Infection with bacteria immune to antibiotics and difficult to treat is common.
  • Growths within the nose (nasal polyps). Because the inner lining of the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps).
  • Expulsion blood (hemoptysis). Bronchiectasis can occur near the blood vessels within the lungs. the mixture of injury and infection of the airways can cause expulsion of blood. This is often just a little amount of blood, but it also can be life-threatening.
  • Pneumothorax. during this condition, air leaks into the space that separates the lungs from the chest wall, and part or all of the lung collapse4444. this is often more common in adults with CF. Pneumothorax can cause sudden pain and shortness of breath. People often feel a bubbling sensation within the chest.
  • Respiratory insufficiency. Over time, CF can damage lung tissue such a lot that does not work. Lung function usually gradually worsens and, over time, are often life-threatening. Respiratory failure is the commonest explanation for death.
  • Acute exacerbations. People with CF may experience a worsening of their respiratory symptoms, like expulsion more mucus, and shortness of breath. this is often called an acute exacerbation and requires treatment with antibiotics. Sometimes treatment often provided reception, but hospitalization could also be needed. Reduced energy and weight loss also are common through exacerbations.

Complications of the gastrointestinal system

  • Nutritional deficiencies. The thick mucus can block the tubes that carry digestive enzymes from the pancreas to the intestines. Without these enzymes, your body cannot absorb protein, fat, or fat-soluble vitamins, so it cannot get enough nutrients. this will cause delayed growth, weight loss, or inflammation of the pancreas.
  • Diabetes. The pancreas makes insulin, which your body must use sugar. CF increases the danger of diabetes. About 20% of adolescents and 40% to 50% of adults with CF develop diabetes.
  • Disease. The tube that carries bile from the liver and gallbladder to the tiny intestine can become blocked and inflamed. this will cause liver problems like jaundice, liver disease and cirrhosis, and sometimes gallstones.
  • Intestinal obstruction. Intestinal blockage can happen to people with CF of all ages. Intussusception, a condition during which a segment of the intestine slides into an adjacent section of the intestine sort of a folding telescope, also can occur.
  • Distal ileus syndrome (DIOS). GOD may be a partial or complete obstruction where the tiny intestine meets the massive intestine. GOD requires urgent treatment.

Reproductive system complications

  • Infertility in men. most men with cystic fibrosis are infertile because the tube that connects the testicles and therefore the prostate (vas deferens) is blocked with mucus or is missing entirely. Confident fertility treatments and surgical procedures sometimes make it likely for men with CF to become biological fathers.
  • Reduced fertility in women. Although women with CF could also be less fertile than other women, it’s possible for them to conceive and have successful pregnancies. Still, pregnancy can make CF signs and symptoms worse, so make certain to debate the potential risks together with your doctor.

Other complications

Thinning of the bones (osteoporosis). People with cystic fibrosis are at increased risk of developing dangerous thinning of the bones. they’ll also experience joint pain, arthritis, and muscle pain.

Electrolyte imbalances and dehydration. Because people with CF have saltier sweat.

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