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Cystic Fibrosis : Symptoms, Causes and Treatment

Cystic fibrosis or cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky, thus clogging various channels, especially the respiratory and digestive tracts.

Under normal circumstances, mucus in the body is liquid, slippery, and acts as a lubricant. Whereas in patients with cystic fibrosis, there are abnormalities in the genes that cause mucus to become sticky and inhibit a number of channels, including the channels found in the lungs and pancreas. This condition results in respiratory and digestive disorders for sufferers from an early age.

Cystic fibrosis can be diagnosed through blood tests in babies who have just been born. If diagnosed with cystic fibrosis, treatment is usually a combination of drug administration and therapy. The choice of surgery can also be done if the condition is severe. This form of treatment will depend on the health conditions and symptoms experienced by the sufferer.

Cystic Fibrosis Symptoms

Symptoms of cystic fibrosis can vary depending on the severity of the disease. Symptoms can appear after birth or only appear when someone has grown up.

The blockage of the airways can occur in people with cystic fibrosis. This will cause some symptoms such as

  • Prolonged cough
  • Short breath.
  • Wheezing
  • Gag
  • Shortness of breath or difficulty breathing
  • Diarrhea
  • The airways dilate due to inflammation (bronchiectasis).

In addition to the above symptoms, lung infections are also susceptible to sufferers of cystic fibrosis because mucus is a suitable place for the proliferation of bacteria.

The same condition can also occur in the digestive system, where the pancreatic duct can be blocked by sticky mucus. As a result, digestive enzymes produced by the pancreas cannot reach the small intestine, to help digest food. This condition often causes symptoms such as:




  • The decrease in body weight or even stunted growth due to food that is not properly digested so that patients are malnourished or malnourished.
  • The texture of the stool is lumpy, oily, and has a strong odor.
  • Severe constipation.
  • Disorders of the initial sewage (meconium) process on the first or second day after birth, due to a blockage. This condition is called the meconium ileum.
  • Baby's skin color becomes yellow (jaundice).

In addition to symptoms in the respiratory and digestive systems, people with cystic fibrosis are also susceptible to:

  • Nasal infections, such as nasal polyps and sinusitis.
  • Pancreatic diabetes cannot produce enough insulin.
  • Infertility in men due to obstruction of the channels that carry sperm, and infertility in women due to the disruption of the menstrual cycle and thick fluid in the uterine wall.
  • Condition of weakened and thinning bones (osteoporosis).
  • Urinary incontinence due to the loss of automatic control of the bladder so that urine can seep out at any time.
  • Liver disorders.

Causes of Cystic Fibrosis

Cystic fibrosis is caused by genes that mutate and are inherited in the family. The gene affects the movement of salt and water in and out of the cell. When a recurrent infection occurs, thick and sticky mucus buildup occurs in several body pipes such as the lungs and digestive system.

If both parents have one mutation in this gene, a child will have a 25% chance of suffering from cystic fibrosis.

Diagnosis of Cystic Fibrosis

A diagnosis to determine the presence of cystic fibrosis can be done since the newborn. The goal is so that treatment can be done as early as possible.

One type of examination that is commonly done is the DNA examination. In this method, damage to the gene that causes cystic fibrosis can be detected. Before a DNA test is done, the doctor will usually recommend a blood test first to see any indication of cystic fibrosis when the baby is 8 days old. Furthermore, if deemed necessary, genetic testing or DNA can be done. This examination is done by taking DNA samples from saliva or baby's blood.

Another type of examination is a sweat sample test. The purpose of this examination is to detect the presence of cystic fibrosis by measuring salt levels in sweat. Generally, the salt levels of patients with cystic fibrosis are higher than normal size. Examination of sweat samples can usually be done when the baby is at least 2 weeks old.

The next examination to determine the diagnosis of cystic fibrosis is the nasal potential difference test. In this examination, electrodes are placed on the nose to see the smooth flow of salt in the nasal passages.

In addition, there is an examination of organ function to measure the health level of the liver and pancreas. This method can also be used to detect symptoms of diabetes and is usually done regularly after the patient is ten years old.

If the results of the examination can be ascertained that a child has cystic fibrosis, then a further examination is carried out to determine the condition of the disease. Some checks that can be done include:

  • Scanning with X-rays to get a picture of the chest, including the heart and lungs.
  • Scanning with a CT scan to see any serious disturbances in the pancreas, lungs, or other organs.
  • Examination of liver function to detect complications from cystic fibrosis.
  • Examination of the throat or phlegm to find out the bacteria that cause the infection.
  • Examination of lung function and analysis of oxygen and carbon dioxide levels in the blood to assess lung performance.
  • Stool analysis to see the body's ability to digest and absorb nutrients in food.

This examination is also recommended for children or adults who have not had blood tests at birth, especially those who experience recurrent infections, infertility (in men), pancreatitis or inflammation of the pancreas, and nasal polyps.

Cystic Fibrosis Treatment

Until now, cystic fibrosis cannot be cured. Handling is only limited to relieving symptoms, preventing the emergence of complications and infections, as well as helping patients undergo daily activities. Handling can be in the form of:

Giving Medication

The most commonly used drug is antibiotics to fight infections in the lungs. This form of use of antibiotics varies, some are taken as capsules, pills, or syrup, and some are used by infusion or injection. Examples of antibiotic drugs for cystic fibrosis include tobramycin and ciprofloxacin.

In addition to antibiotics, other drugs can also be given to reduce inflammation in the lungs, such as prednisone or fluticasone which belongs to the corticosteroid group, cromolyn which belongs to the membrane stabilizer group, and ibuprofen which belongs to the nonsteroidal anti-inflammatory drugs group (NSAIDs).

Medicines control the volume of mucus and melting mucus in the lungs can also be prescribed for people with cystic fibrosis. Examples of this type of drug are hypertonic solutions for clearing mucus in the lungs, deoxyribonuclease (DNase) which functions to thin mucus in the lungs, mucolytic (eg acetylcysteine) to reduce the level of mucus viscosity in the intestine, and ivacaftor to reduce levels of mucus inside the body.

To widen the respiratory tract and soothe breathing, bronchodilator (eg albuterol and salmeterol) or anticholinergic drugs (eg ipratropium bromide) can be used. Both types of drugs also function to facilitate the discharge of mucus through coughing. Whereas to help the absorption of food nutrients, pancrelipase can be given as a substitute for pancreatic enzymes.

Other therapies

In addition to drug administration, the symptoms of cystic fibrosis can also be overcome by physiotherapy, including:

  • Therapy to remove thick mucus from the body through clamping on the chest or back, breathing techniques, or special tools.
  • Pure oxygen therapy to overcome the decrease in oxygen levels in the blood and prevent pulmonary hypertension.
  • Physical exercise and exercise to improve fitness.
  • Modified postural drainage, so that mucus is easily removed from the lungs by changing body position.

Operating Procedure

Treatment of cystic fibrosis with a surgical procedure is recommended by a doctor if the symptoms suffered are more severe and can no longer be treated with drugs or other methods. In the case of severe cystic fibrosis with the lungs unable to function, lung transplant surgery may be the single most effective way to prolong the life of the patient, even though this operation itself is very risky. Surgery is also needed if cystic fibrosis causes blockages in the large intestine, to eliminate the blockage.

Cystic Fibrosis Complications

Some of the complications that can occur due to cystic fibrosis are:

  • Chronic infections, such as bronchitis, pneumonia, and sinusitis.
  • Pneumothorax, which is an accumulation of air in the pleural cavity (the cavity that separates the lungs and chest wall).
  • Bronchiectasis, which is damage to the respiratory tract which makes the patient more difficult to expel phlegm.
  • Acute exacerbations, namely sudden worsening of symptoms, are characterized by shortness of breath or cough for several days or several weeks and require treatment at the hospital.
  • Hemoptysis or coughing up blood, due to thinning of the walls of the respiratory tract.
  • Breath failure due to worsening lung condition.



References

References

1. US Department of Health and Human Services. National Heart, Lung, and Blood Institute. Cystic Fibrosis.

2. Edmonson, C. Davies, JC. (2016). Current and Future Treatment Options for Cystic Fibrosis Lung Disease: Latest Evidence and Clinical Implications. Therapeutic Advances in Chronic Disease.

3. WebMD (2017). Cystic Fibrosis - Topic Overview.


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Is a health and wellness enthusiast. In him free time, she loves to travel and taste different types of teas.

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