Cystic fibrosis: what it is, symptoms, treatment, diagnosis

What is cystic fibrosis?

Cystic fibrosis is a disease that is also known as mucoviscidosis or, otherwise, only by CF. Cystic fibrosis is a genetic, autosomal, hereditary and recessive disease. In short, the disease is passed from parents to their children, but they do not necessarily need CF.

Its main characteristic is the accumulation of secretions in the lungs, digestive tract and other parts of the body. Sometimes, this secretion is sticky and dense. The disease can still be called Mucoviscidosis or Salted Kiss Disease, due to the excess elimination of salt by sweat to the point that other people feel the “taste”.

About 70,000 people are believed to have the problem worldwide. There are also those who say that 4% of European descendants have the gene for the disease. In Brazil, 1 person for every 10,000 is affected.

Causes

CF is caused by a defect in the gene that causes the body to produce excess mucus and ends up accumulating in the respiratory tract and pancreas. This defect is caused in the long arm of chromosome 7, in region 3 and band 1 (7q31). Thus, the disease is considered autosomal recessive.

The excess mucus ends up causing infections in the lungs and can put the patient’s life at risk, leading to serious digestive problems. The male reproductive system and sweat glands can also be affected with the disease.

Generally, children under the age of 2 are already diagnosed with the problem, but in other cases, the disease is diagnosed as an adult. These adult patients usually have more symptoms and problems related to the disease.

Symptoms of cystic fibrosis

The symptoms of the disease usually vary according to the patient’s age. Newborns and younger children often have different symptoms than other patients.

Newborns have the following main symptoms:

  • Difficulty gaining weight;
  • Dehydration for no apparent reason;
  • Secretions that hinder the functioning of the intestine;
  • Cough with discharge.

Older patients:

  • Diabetes;
  • Respiratory infections;
  • Delayed puberty;
  • Infertility (it is believed that only 30 or 40% of women are unable to become pregnant and only 2% of men are able to become biological parents);
  • Chronic sinusitis;
  • Weight loss;
  • Chronic diarrhea;
  • Deformity in fingers and nails;
  • Malnutrition;
  • Formation of nasal polyps;
  • Biliary cirrhosis.

Risk factors

Family history is the biggest factor that can bring risks to patients. Another factor is white skin, which suffers much more from the disease than people of other races.

The disease, being autosomal, manifests itself in both men and women. It is believed that 1 in 5 people are asymptomatic carriers of the CF gene.

The disease is recessive, that is, the patient needs to receive an affected gene from the father and one from the mother. Thus, the child will have a 25% chance of having the disease. Some of the cystic fibrosis patients may become sterile due to the blockage of the vas deferens.

In the past, children who suffered from CF used to not survive long, but with the evolution of medicine, the diagnosis becomes easier and the treatment too. Nowadays, the quality of life of patients is much better than that of years ago.

Diagnosis of cystic fibrosis

The doctors responsible for treating this disease are:

  • Gastroenterologist;
  • Pulmonologist;
  • Medical genetics;
  • General practitioner.

These professionals are qualified to identify problems and order tests to be able to make the diagnosis. During the consultation, they can still ask questions that indicate when the symptoms appeared, what they are and what their frequencies are.

The tests that doctors usually order to identify cystic fibrosis are:

  • Foot test;
  • Sweat test;
  • Genetic testing.

For newborns, the heel prick test is indicated. The sweat test can also be done, but it is very difficult to perform before the baby is 3 or 4 weeks old.

The sweat test is done to identify the amount of salt in the sweat from pilocarpine. It can also be performed on children and adults. This test also identifies the family history of the disease and the clinical signs.

Genetic testing is also a good option to find out how the disease came about. As the disease can affect several organs, other tests can be done to identify cystic fibrosis, such as:

  • X-ray or chest tomography;
  • Lung function test;
  • Secretin stimulation test;
  • Stool fat testing;
  • Measurement of pancreatic function;
  • Trypsin and chymotrypsin in feces;
  • Series of the upper gastrointestinal tract and small intestine.

What is the treatment?

The main function of treatment is to improve the patient’s quality of life. Several treatments can be done for cystic fibrosis. For children, it is essential to keep an eye on food so that they are always nourished.

As there are patients with lung problems due to the disease, treatment is done with:

  • Inhaled drugs to open the airways;
  • Antibiotics to prevent and treat lung infections;
  • High concentration of saline solutions;
  • Enzyme replacement to facilitate sputum;
  • When the case is very serious, lung transplantation is an option.

For patients with intestinal and nutritional problems, the following can be included:

  • Pancreatic enzymes to absorb proteins and fats;
  • Diet rich in proteins and calories;
  • Use vitamin supplements.

The doctor is the person to do your treatment correctly. It is recommended not to self-medicate or interrupt the treatment before the end. Some medications can be indicated by the specialist:

  • Ciprofloxacin ;
  • Aires;
  • Fluimucil.

Attention! 

NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained on this site is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.

Complications

If the disease is not treated correctly, bigger problems can arise, such as:

  • Diabetes;
  • Intestinal problems;
  • Malnutrition;
  • Arthritis;
  • Recurrent pneumonia;
  • Pneumothorax;
  • Heart failure (right side);
  • Liver disease or failure, biliary cirrhosis and pancreatitis;
  • Blood expectoration.

What is the life expectancy of someone with Cystic Fibrosis?

In Brazil, the life expectancy of CF patients is 19 years, because the disease has no cure and is serious. Despite this, SUS (Unified Health System) offers treatment at no cost.

Living with the disease

Although the disease has no cure, the treatment helps to improve the quality of life. And, in addition, some care can be taken to make it more effective and the recovery is more agile:

  • Drink plenty of fluids;
  • Do physical exercises 2 or 3 times during the week;
  • Do not smoke;
  • Avoid smoke, dirt, dust and chemicals;
  • Clean or remove mucus and secretions from the airways.

Kids

It is difficult for the little ones to accept the disease, as they have to perform a series of activities different from other children, such as, for example, staying in the hospital in some situations that can cause fear.

Children, when attending school, suffer some prejudice from classmates because they are more debilitated and often need medication during class, as well as performing respiratory activities.

In such cases, the parents must maintain an open relationship with the child, teaching that it is necessary to carry out all the necessary treatments so that the child has a good quality of life. As for the hospital, if it is discussed with the doctor, it may be that the parents can spend more time with the child in order to be safe.

Country

Many parents feel guilty that their children have the disease, but this cannot happen, because there is no way to imagine that they would cause the child the disease. If there are other children in the family besides the patient, it is necessary to distribute love and affection equal to all so that there are no conflicts and crises of jealousy inside the home.

Prevention

There is no prevention, since, in most cases, the disease is genetic. What can be done is to follow the recommendations given above so that the patient lives better.


Cystic fibrosis is a disease that is not widely reported, although it is dangerous to health. Treating the problem as soon as it is diagnosed is essential to ensure that the patient is able to have good conditions to live.

Share this text with your family and friends so they can also learn about the disease.

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