Cystic Fibrosis: causes, symptoms and treatment

Cystic fibrosis is a genetic disease that affects a certain type of gland in such a way that it degenerates the functioning of some of the essential organs in our body. Then we talk about the Cystic Fibrosis: causes, symptoms and treatment.

What is Cystic Fibrosis?

Cystic fibrosis is a genetic disease that affects the exocrine glands , such as those that produce mucus and sweat. The consequences of its malfunction are the lungs, the pancreas, the liver, the intestine, the sinuses and the reproductive system.

Cystic Fibrosis: causes, symptoms and treatment

People with cystic fibrosis produce a thick, sticky mucus which, instead of humidifying the surface with which it is in contact, is deposited by blocking the first of all airways . Any duct, including those that allow pancreatic juices to enter the small intestine to participate in digestion, become clogged. This results in absorption problems and an increased risk of bacterial infections leading to malnutrition, severe lung damage, intestinal problems and abdominal pain.

In addition, cystic fibrosis leads to the loss of many salts through sweating, causing electrolyte dysfunction, dehydration, increased heart rate, fatigue and weakness, reduced blood pressure and heat stroke. Finally, the disease may increase the risk of osteoporosis and osteopenia and be associated with male and female fertility problems.

Causes of Cystic Fibrosis

Causes of cystic fibrosis has a lot to do with genetic inheritance , since it occurs at mutations in > the CFTR gene , which encodes a protein that controls the passage of water and some salts in and out of cells. The mutated protein does not work properly and leads to the production of mucus thick and sweat very rich in salts . The possible mutations of CFTR are more than a thousand and can cause forms of cystic fibrosis of different severity. In addition, other genes may also contribute to the severity of the disease.

Cystic Fibrosis: causes, symptoms and treatment

Cystic fibrosis is caused specifically by a mutation of the CF gene (chromosome 7) and the related protein alteration called CFRT (cystic fibrosis transmembrane conductance regulator), responsible for the transport of chlorine from the inside to the outside of the cells of the body and that it must encourage its transport of water

It can be healthy FC carriers without knowing it, because if only one of the two alleles of the CFTR gene is mutated in recessive, a person will not develop the disease. In Spain there is a person who transports the gene and is healthy for every 25 people.

As a pathology of autosomal recessive transmission, it is transmitted and manifested when both parents they are carriers and the child inherits the mutation of each one .Most of the other symptoms appear later in time and may be the ones listed below:

Cystic Fibrosis: causes, symptoms and treatment
  • In the respiratory system : accumulation of thick mucus in the respiratory tract and recurrent and antibiotic-resistant infections, continuous sinusitis, frequent bronchitis and pneumonia and, in some cases, polyps nasal, bronchiectasis and pneumothorax
  • In the digestive system : diarrhea or stools with oily and nauseating appearance, intestinal obstruction, flatulence excessive and severe constipation associated with abdominal pain, nutritional deficiencies that hinder growth and weight gain, pancreatitis, rectal prolapse, liver disease, diabetes and stones in the gallbladder
  • At levels of the male reproductive system : the lack of the vas deferens, in the feminine: bloqu eo of the cervix by the mucus
  • Other possible symptoms include alteration of mineral levels in the body , dilated fingertips (clubbing) and reduction of bone density.

Along with the symptoms indicated, we can summarize those that tend to be the most frequent and general in practically all patients suffering from cystic fibrosis:

  • persistent cough and shortness of breath,
  • excessive production of mucus and subsequent bronchial and pulmonary infections,
  • progressive loss of lung function,
  • chronic diarrhea, oily and malodorous stools,
  • in some cases, intestinal obstruction at birth (meconium ileus),
  • intestinal obstructions that alter digestion and nutrient assimilation, which results in poor growth in weight and height,
  • salty sweat, due to the mutation that causes the disease in the transport of fluids in the body.

Treatment against Cystic Fibrosis

At the time of approaching a treatment, the doctor must be sure that the patient suffers from cystic fibrosis, for this he is given a test called sweat test , which measures the concentration of salts such as sodium and chlorine in sweat. The values ​​are positive for FC when they exceed 60 mEq/l. It can be performed in children from six weeks of age, when normal values ​​of sweat salts are less than 40 mEq/l.

Cystic Fibrosis: causes, symptoms and treatment

Another method to recognize and diagnose the disease today passes through control procedures, through amniocentesis during pregnancy or neonatal evaluation immediately after delivery Being in fact a hereditary genetic disease, then congenital, it appears before birth. Thanks to amniocentesis (or prenatal screening), genetic testing can be carried out on the DNA of amniocytes, that is, fetal cells present in the amniotic fluid, to find out if the fetus has the mutation. This operation, however, is done only in the case of the actual possibility of the disease, since the procedure is very invasive and can lead to serious secondary risks to the fetus and a certain 100% result has not yet been recorded./p>

In this way, once it has been concluded that the disease exists, the treatment of rigor must be applied, which can vary between adults and children, as we see below:


In the case of the treatment of cystic fibrosis for adults, there are nutritional therapies that are involved in the treatment of symptoms, especially in the gastrointestinal system.To make the bronchial secretions more fluid, the majority of patients effectively resort to the administration of Rh DNase or hypertonic saline solution by aerosol. And when clinical conditions allow, sports also play an important role in the prevention of respiratory infections and in improving the quality of life of patients.

The treatment You can also go through the supply of antibiotics to alleviate the infections that may occur.


Regarding treatment for children we have to mention therapeutic tools available to prevent and treat the various complications of the disease . Due to pancreatic insufficiency, pancreatic enzymes can be supplied to ensure adequate absorption of dietary fats and, therefore, satisfactory growth; In addition, the treatment must include a adequate diet .

The cornerstone of childhood treatment, however, is represented by prevention and treatment of pulmonary complications by daily physiotherapy and aerosol therapy with antibiotics and medications that fluidize secretions and facilitate mucociliary cleansing .

In recent years, CFTR modulators have also become available, medicines that they partially recover the function of the CFTR protein, thus acting in the basic defect of the disease with results, in some cases, exceptionally favorable.

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