Cystic Fibrosis

Top

It is a genetic disease that especially affects the population of Caucasian origin (white race).

What is it?

Cystic Fibrosis is due to an alteration (mutation) of a protein called cystic fibrosis transmembrane reactance (CFTR) which causes an alteration in the exchange of chlorine and sodium through the cell membranes of different organs of our body. This alteration causes the secretions produced by these organs to be more viscous and thick and their ducts become clogged. It also produces an increase in salt in sweat.

One of the organs affected is the lungs. In them, the viscous secretions can obstruct the airways (bronchi) making it difficult for air to pass through them. In addition, this accumulation of secretions facilitates the appearance of infections.

Other affected organs are the pancreas, bile ducts, sweat glands, and genitourinary system.

mutations

There are different types of mutations that give rise to one type of alteration or another in the protein

Prevalence

It is considered a rare disease. In Europe it is estimated that there is one affected person for every 3500 people, while the number of healthy carriers would be 1 for every 20-37 individuals.

Transmission:

It is a genetic disease that is inherited in an autosomal recessive manner, that is, in order to have symptoms, you need to inherit a defective gene from your mother and another from your father. If you inherited a healthy one and a defective one, then you would be a carrier who would not develop the disease but could pass it on to your children.

Clinical manifestations

Because it affects many organs, it is a disease that can present various manifestations.

At the lung level

There is an increase in the production of thicker mucus, this leads to clogging and obstruction of the finer airways. This accumulation of mucus facilitates the appearance of repeated infections that end up deforming the bronchi, giving rise to bronchiectasis. It can also lead to the appearance of sinusitis.

At the level of the digestive system

Involvement of the pancreas produces malabsorption that results in a deficiency of fat-soluble vitamins, a lower caloric intake, delays in development and growth, and sometimes rectal prolapse. It can also cause intestinal and liver problems.

At the level of the endocrine and metabolic system

In late stages it can cause diabetes mellitus. This alteration causes developmental delay.

At the level of the reproductive and urinary systems

It can cause infertility in men due to obstruction of the vas deferens.

At the level of the sweat glands

There is an increase in the production of thicker mucus, this gives rise to a The skin has a salty taste due to the increase in sodium, potassium and chlorides in the sweat.Repeated sections that end up deforming the bronchi, giving rise to bronchiectasis. It can also lead to the appearance of sinusitis.

At the level of the muscular and skeletal system

Alterations in bone mineralization that cause osteopenia and osteoporosis in affected adults.

Symptom

The most frequent symptoms are:
– Frequent respiratory infections
– Coughing, shortness of breath, damage to the airways and wheezing in the chest when breathing.
– Difficulty gaining weight and delayed growth.
– Yellowing of the skin and the whites of the eyes.
– Diarrhea, constipation, or large, foul-smelling stools
– In newborns intestinal obstruction.

Diagnosis

Prenatal diagnosis
In direct descendants of CF patients who want to have children, it is advisable to carry out a genetic study. If both parents are carriers, a fetal biopsy may be performed to determine if the fetus is affected. If so, the option of performing a therapeutic abortion may be considered.

newborn diagnosis
Early diagnosis is essential to improve control of the disease. Currently, in many countries, it is included in the heel prick performed on newborns.

If this test suggests that the baby may have CF, it is necessary to confirm the diagnosis by means of a sweat test, to measure the increase in salts in it, and a genetic test, to determine the presence of the genetic alteration that produces CF.

Control and treatments

The treatment that will facilitate the control of CF has to be programmed by a multidisciplinary team due to the multiplicity of affected organs.

Until now, CF treatment has been based on relieving symptoms and trying to make the disease progress more slowly, since it is a disease that has no cure.

Antibiotics

One of the biggest problems facing a person with CF is lung infections, which need to be prevented. Thanks to antibiotics, one of the basic pillars of CF treatment, we can reduce the number of microorganisms that cause infections and thus control the infection.

The type of antibiotic prescribed and its method of administration (oral, inhaled, intravenous...) will depend on the germ causing the infection and the severity of the infection.

Respiratory physiotherapy

Respiratory physiotherapy is a specialty of physiotherapy that aims to maintain and/or improve lung function, reduce the symptoms associated with respiratory disease and clear the airways of secretions to reduce complications and possible recurrences of the disease.

By adapting the techniques, it can be applied from newborns to the elderly.

Physical exercise

Currently no one doubts that regular exercise is a fundamental pillar for the physical and mental development of those affected. It is an ideal complement to respiratory physiotherapy.

The amount and intensity of the exercise must be adapted to each patient and each moment, so it cannot be protocolized.

The most recommended sports are those of an aerobic type such as swimming, athletics and cycling, carried out outdoors. Horse riding, dancing and racket sports are also beneficial, as they will help us mobilize the rib cage and loosen secretions.

Before doing a specific sport, it is advisable to consult a specialist to see if there may be any contraindications.

enzyme supplementation

It is used to treat pancreatic insufficiency. It is an extra contribution of enzymes to ensure that the loss of fats, vitamins, proteins and bile acids in the feces is as little as possible.

It has to be prescribed in a personalized way according to the needs of each patient.

Vitamin supplements may also be necessary.

nutritional treatment

Maintaining an adequate nutritional status in the person affected by CF is essential to improve their quality of life and survival.

Malnutrition must be treated from the moment of diagnosis, with three factors favoring it:

– The increase in energy expenditure;
– Decreased food intake;
– Increased nutrient losses;

In a person with CF, the usual intake should provide between 120 and 150% of the calories recommended for healthy people of the same age, sex and body composition.

When nutritional goals cannot be achieved or maintained through diet, artificial nutritional supplements can be used orally, in milder cases, or enterally (through a tube), percutaneously (gastrostomy with a tube) or parenterally (through the blood).

Education

Due to the complex management of this disease, it is recommended that affected people and their families go to specialized units where they work with multidisciplinary teams.

It is very important that both the patient and their environment fully understand what the disease is and how to manage it, in order to improve its control.

New treatments

The new treatments with modulators They are aimed at correcting the function of the defective protein. The vast majority are in the study phase and efforts are being made to find drugs that work with all the mutations that cause the disease. It is estimated that, currently, in Spain, 30% of the people affected do not have any treatment for their mutation.

The main existing modulators are:

– IVACAFTOR: CFTR protein enhancer. It increases the opening of the channel to allow the passage of chloride ions.
– LUMACAFTOR+IVACAFTOR: CFTR corrector, acts directly on the F508 mutation, improving the transport and processing of chloride ions.
– TEZACAFTOR+IVACAFTOR: It increases the amount of CFTR protein that is delivered to the cell surface and thus increases chloride ion transport.
– ELEXACAFTOR+TEZACAFTOR+IVACAFTOR: Triple medication that corrects the CFTR protein defect by increasing the function, activity, and transport of chloride ions.

The therapies to restore the property of airway surface fluid They are therapies that aim to improve the movement of salts in and out of the cells, allowing the mucus to be better hydrated and easier to eliminate. Some examples are the hypertonic saline and mannitol.

Lung and/or liver transplant

It is the solution to the most serious cases of CF. When the lungs or liver stop working properly, a transplant may be the solution.

In both cases, the operation carries risks, but it can greatly improve the evolution and quality of life of the affected people.

Spanish Federation Cystic Fibrosis

Cystic Fibrosis Associations

We just try. Together we go further.

See associations

Cystic fibrosis