Cystic Fibrosis

Cystic Fibrosis

Cystic fibrosis or 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 come into contact with someone who is infected.  

Under normal circumstances, mucus, which acts as a lubricant in the body, is liquid and slippery. However, in people with cystic fibrosis, there are abnormalities in the genes that regulate the flow of fluid and salt 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 cystic fibrosis sufferers are inherited from both parents. If a child receives this gene mutation from only one parent, then he or she is only a carrier for cystic fibrosis. A carrier does not suffer from cystic fibrosis, but can pass this 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 for each patient, depending on the blocked organ canal 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 may worsen suddenly over 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 the mucus that clogs the ducts that carry digestive enzymes from the pancreas to the small intestine, the patient's body cannot absorb nutrients from the food consumed. This causes symptoms in the form of:

  • Oily and very smelly stools
  • Stunted growth or weight loss
  • No bowel movements on the first day after the baby is born
  • Severe diarrhea or constipation
  • Skin color becomes yellowish ( jaundice )

Someone who suffers from cystic fibrosis also has sweat that is saltier than sweat in general. This symptom is generally recognized by parents who kiss their child's forehead.

When should I go to the doctor

Consult a doctor if you experience symptoms of cystic fibrosis. This disease can occur 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.

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

Cystic fibrosis is a disease that runs in families. If your family members suffer from cystic fibrosis, you should consult with 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 progress 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
  • Married couples who suffer from or are carriers of cystic fibrosis, to see how much the risk of their child getting cystic fibrosis is

In addition to gene testing, doctors can also do 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 the sputum, and test the lung function to see if there are any problems with the respiratory tract. These disorders will arise in patients with cystic fibrosis.

Cystic Fibrosis Treatment

Cystic fibrosis treatment aims to thin mucus in the lungs so that it can be easily removed, prevent lung infections or treat them when they occur, prevent intestinal obstruction , and maintain adequate nutrition for sufferers.

Some types of treatment that the doctor will give are:

Drugs

Doctors can provide some of the following medicines to treat cystic fibrosis:

  • Sputum thinning drugs, to make it easier to expel phlegm in the respiratory tract
  • Respiratory relievers, 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

Physiotherapy is available 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.

Operations and other medical procedures

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

  • Oxygen supplementation, to prevent hypertension in the lungs
  • Bronchoscopy and lavage , to suck up and clean the mucus that closes the respiratory tract
  • Nasal polyp removal surgery, to remove blockages in the nose that interfere with the patient's breathing
  • Installation of a feeding tube, to provide adequate nutritional intake to the patient
  • Bowel surgery, especially in patients who also have intussusception
  • Lung transplantation, 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 attack various systems and organs, such as:

1. Complications in the respiratory system, including:

  • Chronic infections, such as sinusitis, bronchitis, and pneumonia
  • Bronchiectasis , which is a thickening of the airways that makes it difficult for sufferers to breathe and expel phlegm
  • Nasal polyps, formed from inflamed and swollen parts of the nose
  • Pneumothorax , namely the accumulation of air in the pleural cavity, which is 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, which continues to get worse, can also make sufferers experience respiratory failure until they stop breathing.

2. Complications in the digestive system, namely:

  • Nutritional deficiencies, 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 duct which can cause gallstones and impaired liver function
  • Obstruction or blockage in the intestine

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 that suffers 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 blood or saliva samples. This test can be done when 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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