Cystic fibrosis disease is a genetic condition which is characterized by persistent lung infections and progressive difficulties in breathing. Due to a genetic defect, the condition can cause a buildup of a sticky and thick mucus in different organs, such as pancreas, liver, sinuses, sex organs and predominantly the lungs. This mucus is supposed to be smooth, thin and oily. However, a defect in the gene can cause it to become thick and sticky. The function of this fluid is to lubricate various organs and tissues, which can protect them from dryness and infection. The condition can get life-threatening in acute cases, as it can cause infections and failure of respiratory systems. That is why the treatment should start immediately after the diagnosis, which will not only improve the quality of life but also improve a patient’s lifespan.

CAUSES OF CYSTIC FIBROSIS

Cystic fibrosis can be inherited due to the mutation of the cystic fibrosis gene on chromosome 7. This gene is responsible for encoding the cystic fibrosis trans-membrane regulator protein. The thick mucus is overproduced which can create blockages in the air passage of the lungs. As a result, frequent infections are also experienced by the patients.

People with the cystic fibrosis disease often experience the initial symptoms at an early age, which can gradually intensify and lead to breathing problems. human beings have two CF protein genes inherited from both the parents. A mutated gene (autosomal recessive) can be inherited from either of the parents (See Figure Below), which causes cystic fibrosis. When other digestive organs are also affected, the blocks can stop the enzymes from reaching the intestine due to which the digestive process can be impacted. A characteristic symptom of cystic fibrosis disease is a very salty sweat which is caused due to the chloride channel defect. People which cystic fibrosis can lead a normal life. however, they require daily care.

SYMPTOMS OF CYSTIC FIBROSIS

The symptoms of cystic fibrosis for each patient may be different. It may also vary with the progression of the disease and the passage of time. The first onset of symptoms is usually at an early age. However, in some cases, the initial symptoms may only be noticeable in adolescence. Here are some of the most common symptoms that are associated with cystic fibrosis.

The saltiness of the skin due to salty sweat

Under-weighted children

Breathing problems

foul and greasy stools

Shortness of Breath

Slow growth in children

Appetite loss

Digestive problems

constipation

Frequent nausea

Swelling in the abdomen

Wheezing

Metabolic problems

Blocked sinus

Respiratory infections

Sticky mucus while coughing

Lack of stamina

Blocked nose

CYSTIC FIBROSIS DIAGNOSIS

Once the symptoms are noticed they should be reported to the doctor immediately. In some countries, all the children are screened for the condition. For the diagnosis, the most common test is sweat chloride test, which can identity be chloride concentration in the sweat. Apart from that, genetic tests are also used to detect the indications by studying the defect in the gene of CFTR protein. A blood test is another way to rule out the possibility of defects in the liver and the pancreas of a child. Other tests include Immunoreactive Trypsinogen Test, Chest X-ray, sputum test, and Pulmonary Function Tests.

TREATMENT OF CYSTIC FIBROSIS

There is no cure for the condition of Cystic fibrosis. However, only recently the treatments available for the condition have improved to a great extent. There may be a combination of different treatment approaches feasible for a certain patient, such as medication, nutritional therapy, exercising, and respiratory therapies. The treatment should start right after the diagnosis as it is detrimental to the results. Improvements in the treatment of the condition are improving the life expectancy of the patients as well. People with cystic fibrosis are now living up to the age of 50 years. Here are some of the most effective treatment options available.

Medications

There are various medicines which can be administered based on the symptoms and the affected region. In case of a lung infection caused due to the condition, antibiotics will be used in the form of capsules, injections tablets and liquids depending on the severity. Nonsteroidal anti-inflammatory drugs (NSAIDs) are also commonly given to alleviate the symptoms of fever and pain. These may include indomethacin and ibuprofen. Mucus-thinning medications are used to open the blockages so that the mucus can be removed. these medicines have a temporary effect as they cannot treat the genes. Bronchodilator medicines can be used to relax the muscles around the tubes that carry air to the lungs.

Treatment for Lung Problems

Lungs problems are very common due to cystic fibrosis, and they can be treated in a number of ways. In a chest physical therapy, hands or a device is used to pound the chest which can release the sticky mucus. It is then removed by coughing. Certain breathing techniques are also involved in this therapy. Aerobic exercise can also help as a more rigorous breathing can loosen up the mucus from the airways. In cases where you experience advanced lungs diseases, the patient may need oxygen therapy via nasal prongs or masks. In extremely severe conditions, the patient may have to undergo a lung transplant. A pulmonary rehabilitation therapy is also required as an essential treatment plan. It is administered together with medical therapy, which may include:

Education on your lung disease

Teaching the ways to manage the condition

Breathing exercises and strategies

Exercise

Psychological counseling

Nutritional counseling

Group support

Energy-conserving techniques

Treatment for Digestive conditions

Digestive issues can also be caused due to CF, which may lead to various symptoms and slowed growth and development. To address this, Nutritional therapy can be used for a well-balanced diet to improve the immunity and strength of the body. It can further include supplements of vitamins that can be absorbed by the intestines, oral pancreatic enzymes to aid digestion, high calories shake, a feeding tube to increase the calorie intake during the sleep, and high salt diet. The digestive conditions can also be treated with enemas and mucus-thinning medicines that can remove intestinal blockages. Sometimes surgery is needed to remove an intestinal blockage.

Treatments for Complications

Diabetes can be a common complication due to the condition. CF induced diabetes should be handled differently than other kinds of diabetic conditions. Cystic fibrosis can also cause bone-thinning disorder, known as osteoporosis. Mediation for preventing this condition is also administered.

Conclusion

Although a patient of cystic fibrosis disease looks like just another normal person leading a normal life, the condition is far more dangerous than we realize. Not treating the condition in a timely manner by ignoring the symptoms can drastically reduce the patient’s lifespan and quality of life. Therefore, it is essential to get it treated immediately after the diagnosis. Latest treatment options have improved the overall results and the life expectancy of the patients.