Cystic Fibrosis, Causes, Diagnosis, Treatment, Prevention, Complications

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Cystic Fibrosis, Causes, Diagnosis, Treatment, Prevention, Complications

Cystic fibrosis is a hereditary disease that causes mucus in the body to become thick and sticky. Cystic fibrosis is not contagious, but sufferers are more susceptible to contracting the infection if they are close to or in contact with an infected person.

Under normal circumstances, mucus which acts as a lubricant in the body is fluid and slippery. However, in people with cystic fibrosis, there are abnormalities in the genes that regulate the flow of fluids and salts in cells.

This gene abnormality causes mucus to become sticky and block a number of channels in the body. The respiratory tract is one of them.

Causes of Cystic Fibrosis

Cystic fibrosis is caused by mutations or changes in genes that regulate salt distribution in the human body. Changes in these genes make the salt levels in sweat increase. This condition causes mucus in the respiratory, digestive, and reproductive systems to become thick and sticky.

Gene mutations in patients with cystic fibrosis are inherited from both parents. If a child receives this gene mutation only from one parent, then he or she is only a carrier for cystic fibrosis. A carrier does not have cystic fibrosis, but can pass the disorder on to their offspring.

Symptoms of Cystic Fibrosis

Symptoms of cystic fibrosis can appear at birth or as adults. However, there are also those who do not experience any symptoms until adulthood.

Symptoms of cystic fibrosis can be different in each patient, depending on the blocked organ tract and its severity.

Symptoms of cystic fibrosis in the respiratory tract

Thick and sticky mucus can clog the respiratory tract, causing symptoms of cystic fibrosis in the form of:

  • Nasal congestion
  • Prolonged cough with phlegm
  • Get tired quickly when you are active
  • Wheezing (wheezing)
  • Hard to breathe
  • Recurrent respiratory infections

Symptoms in the respiratory tract can worsen suddenly over a few days or weeks. This condition is called an acute exacerbation of cystic fibrosis.

Symptoms of cystic fibrosis in the digestive tract

As a result of mucus that clogs the channel that carries digestive enzymes from the pancreas to the small intestine, the patient's body cannot absorb nutrients from the food consumed. This causes symptoms such as:

  • Greasy and very smelly stools
  • Stunted growth or weight loss
  • Not defecating on the first day after the baby is born
  • Severe diarrhea or constipation
  • Yellowish skin color (jaundice)

A person with cystic fibrosis also has sweat that is saltier than normal sweat. This symptom is generally recognized by parents who kiss their child's forehead.

When to go to the doctor

Consult a doctor if you experience symptoms of cystic fibrosis. This disease can arise even from the first day the baby is born. Immediately consult a pediatrician if the baby does not defecate in the first 24 hours after birth.

Adhere to your child's immunization schedule. At the time of immunization, the doctor will conduct a thorough health examination of your child. This is important for early detection when there are abnormalities in children.

Cystic fibrosis is a disease that runs in families. If a member of your family has cystic fibrosis, you should talk to your doctor about the possibility that you or your child may have cystic fibrosis.

For people with cystic fibrosis, be sure to always have your health checked regularly, so that the development of this disease is always monitored. Patients also need to be alert and immediately go to the nearest hospital emergency room if they experience shortness of breath.

Diagnosis of Cystic Fibrosis

The test to diagnose cystic fibrosis is a genetic test (CFTR gene). This examination can be done when the baby is born or as an adult.

Genetic testing is necessary in the following conditions:

  • Babies born to parents who have or carry the cystic fibrosis gene
  • Children and adults with chronic sinusitis, nasal polyps, recurrent lung infections and pancreatitis, bronchiectasis, and infertility
  • Couples who suffer from or become carriers of cystic fibrosis, to see how big the risk of their child is cystic fibrosis

In addition to gene testing, doctors can also perform blood and sweat tests, to assess high levels of IRT protein in the blood and high salt levels in the sweat of people with cystic fibrosis.

The doctor will also test the function of the pancreas and liver, as well as examine the respiratory tract with X-rays, check phlegm, and test lung function to see any disturbances in the respiratory tract. These disorders will arise in patients with cystic fibrosis disease.

Cystic Fibrosis Treatment

Treatment of cystic fibrosis aims to thin the mucus in the lungs to make it easier to expel, prevent lung infections or treat them when they occur, prevent intestinal blockages, and maintain adequate nutrition for the patient.

Some of the types of treatment that the doctor will give are:


Doctors can give some of the drugs below to treat cystic fibrosis:

  • Sputum thinning drugs, to make it easier to remove phlegm in the respiratory tract
  • Breathing lozenges, to relax the muscles in the respiratory tract so that the respiratory tract remains open
  • Anti-inflammatory drugs, to reduce swelling in the respiratory tract
  • Antibiotics, to treat bacterial infections in the respiratory tract
  • Digestive enzyme supplements, to help the digestive tract absorb nutrients better

Chest physiotherapy and pulmonary rehabilitation

This method is a long-term program to thin phlegm to make it easier to expel and improve lung function. The physiotherapy program carried out includes pats on the chest or back, good breathing techniques, exercise, education about disease, as well as nutritional and psychological counseling.

Surgery and other medical procedures

Doctors may also perform the following procedures to treat cystic fibrosis and its complications:

  • Oxygen supplementation, to prevent hypertension in the lungs
  • Bronchoscopy and lavage, to aspirate and clear mucus that covers the respiratory tract
  • Surgical removal of nasal polyps, to remove blockages in the nose that interfere with the patient's breathing
  • Installation of feeding tubes, to provide adequate nutritional intake to patients
  • Bowel surgery, especially in patients who also have intussusception
  • Lung transplant, to treat severe respiratory problems

Please note, the above methods cannot treat cystic fibrosis, but they can relieve the symptoms experienced.

Complications of Cystic Fibrosis

There are several complications that can be caused by cystic fibrosis. These complications can affect various systems and organs, such as:

1. Complications of the respiratory system, including:

  • Chronic infections, such as sinusitis, bronchitis, and pneumonia
  • Bronchiectasis, which is thickening of the respiratory tract which causes the patient to have difficulty breathing and produce phlegm
  • Nasal polyps, formed from inflamed and swollen parts of the nose
  • Pneumothorax, which is a buildup of air in the pleural cavity, the cavity that separates the lungs and chest wall
  • Thinning of the walls of the respiratory tract to cause coughing up blood or hemoptysis

Cystic fibrosis disease that continues to worsen can also make sufferers experience respiratory failure until they stop breathing.

2. Complications in the digestive system, namely:

  • Lack of nutrition, because the body cannot absorb protein, fat, or vitamins properly
  • Diabetes, especially in people with cystic fibrosis aged 30 years and over
  • Blockage of the bile ducts which can cause gallstones and impaired liver function
  • Intestinal obstruction or blockage

Other complications that can be caused by cystic fibrosis are osteoporosis, infertility, urinary incontinence, and electrolyte disturbances.

Prevention of Cystic Fibrosis

Cystic fibrosis cannot be prevented. However, married couples who suffer from cystic fibrosis or have a family suffering from this disease need to undergo genetic testing. The goal is to examine how much risk the offspring will develop cystic fibrosis.

Genetic testing is done by examining a sample of blood or saliva. This test can be done while the mother is pregnant, especially if she is concerned about the risk of cystic fibrosis in the fetus she is carrying.

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