What is cystic fibrosis and how to live with it

According to world statistics mucoviscidosis (CLINICAL PICTURE, DIAGNOSIS, TREATMENT, REHABILITATION, DISPENSERIZATION), one newborn out of every 2-4, 5 thousand suffers from cystic fibrosis. Previously, this was a verdict: such babies, as a rule, died in early childhood. However, today, thanks to advances in medicine, such people can live a fulfilling life.

Here's what you need to know about this dangerous and incurable, but controllable disease.

What is cystic fibrosis and where does it come from

Cystic fibrosis About Cystic Fibrosis (from the Latin words "mucus" - mucus and "viscidus" - viscous) is a congenital disorder in which the body produces excessively thick and sticky mucus.

In general, mucous secretions are necessary for Cystic Fibrosis: they wash organs and tissues, preventing them from drying out and washing away pathogenic bacteria. Therefore, healthy mucus is like olive oil - thin, slippery, flowing. But with cystic fibrosis, its consistency is disturbed.

The point is in the specific protein CFTR, which is involved in the production of sweat, digestive juices and mucus. One of the tasks of this protein is to move sodium and chlorine ions (these are salt components) to the surface of epithelial cells lining the organs and tissues of the human body. These salt components attract water to the cells, and it, in turn, loosens the mucus, providing it with the necessary fluidity. This is how the CFTR protein functions normally.

However, due to a congenital malfunction in one of the genes, the work of CFTR can be disrupted. There is not enough moisture, and the mucus produced by the endocrine glands becomes unnecessarily thick.

Why is cystic fibrosis dangerous?

The thick and sticky mucus clogs various ducts in the internal organs, leading to serious About Cystic Fibrosis health problems.

Most often, the lungs are affected. The congestion of mucus in the airways makes it difficult to breathe. The body does not receive enough oxygen, which is why there is constant weakness, the child does not grow and develop well. In addition, pathogenic bacteria are easily retained and multiplied in viscous mucus. The consequences of this are frequent pneumonia and other diseases of the respiratory tract, fibrosis of the lung tissue, respiratory failure.

Mucus accumulates in the pancreas. This organ produces a variety of enzymes necessary for digestion, but clogged ducts prevent them from reaching the intestines. As a result, enzymes begin to digest the pancreas itself. Cysts and scars appear on the gland (fibrosis; in fact, hence the second name of cystic fibrosis - cystic fibrosis). Digestion is impaired, which also leads to a slowdown in development and growth.

In the liver, viscous mucus can block the bile ducts, with consequences such as jaundice, gallstones, and cirrhosis.

In men, the seminal ducts are blocked, which means that a person with cystic fibrosis loses the opportunity to have children.

Cystic fibrosis does not necessarily affect all of these organs. This only happens in the most severe cases. Often, the disease only affects the respiratory or digestive system. And sometimes it even goes away in such a light, blurry form that a person does not even know about the disease. Until Cystic Fibrosis matures and experiences aggravated symptoms.

What are the symptoms of cystic fibrosis

Sometimes the disease is obvious. So, every fifth cystic fibrosis infant suffering from cystic fibrosis is born with symptoms of intestinal obstruction. It occurs due to the fact that too viscous original feces (meconium) clogs the intestinal lumen. This is a strong sign that helps to suspect and diagnose cystic fibrosis.

But in some cases, a genetic failure makes itself felt less clearly and its manifestations can be confused with signs of other, less dangerous conditions. For example, one of the indirect symptoms is a strong salty taste on the skin, which appears due to poor removal of chlorine and sodium ions.

Parents of children suffering from cystic fibrosis often mention Cystic Fibrosis, that even before the diagnosis was made, they noticed an unusual salinity of the baby's skin when kissing.

Other signs of Cystic Fibrosis depend on which body system is most affected by the cystic fibrosis.

Breathing symptoms

Regular, non-cold-related cough with sputum production.
Hoarse breathing.
Constant nasal congestion.
Recurrent sinusitis (inflammation of the sinuses).
Frequent lung infections.
Shortness of breath, increased fatigue during active games and physical exercises.

Digestive symptoms

Chronic constipation.
Frequently recurring cases of bloating.
Greasy, foul-smelling feces.
Poor gain in height and weight.

What to do if you suspect cystic fibrosis

See your pediatrician or physician immediately. This is especially important if someone in your family has ever been diagnosed with this genetic disorder.

Cystic fibrosis is the most common cystic fibrosis: definition, diagnostic criteria, therapy, hereditary disease among Caucasians.

The doctor will conduct an examination, look at the medical history, ask about the symptoms and, if necessary, offer to take several tests. Most often, this is a sweat analysis: it helps to establish an increased content of chlorine and sodium ions. A more complex molecular genetic study is also being carried out, which can confirm or deny the breakdown of the gene associated with the work of the CFTR protein.

If cystic fibrosis is detected, the patient will be referred to a pulmonologist, gastroenterologist or other specialized doctor.

How to treat cystic fibrosis

Unfortunately, modern medicine cannot treat genetic breakdowns. But there are ways to relieve symptoms, reduce the risk of complications, and improve your overall quality of life.

People with cystic fibrosis, with proper therapy, survive Cystic Fibrosis up to 40-50 years.

Typically, symptomatic treatment includes:

Taking mucolytics - medicines that thin mucus.
Antibiotic therapy. It helps to cope with bacterial infections that have arisen due to stagnant mucus.
Taking pancreatic enzymes to improve digestion.
The use of drugs that soften the stool. They are needed to prevent constipation or bowel obstruction.
Taking anti-inflammatory drugs that help relieve swelling of the airways in the lungs.

In addition, your doctor will prescribe a special high-calorie diet, which is necessary to improve growth and development, and will recommend regular breathing exercises to loosen mucus.

In severe cases, the patient may require oxygen therapy, tube feeding, and major surgeries associated with a damaged lung or liver transplant.

Can cystic fibrosis be prevented?

Unfortunately no. This is a genetic disorder that can occur if the father and mother of the child (necessarily both!) Are carriers of defective genes associated with malfunctioning of the CFTR protein. By the way, there are many carriers: for example, in the USA it is every 29th Carrier Testing for Cystic Fibrosis person belonging to the Caucasian race.

But even two carriers can have perfectly healthy children. The risk of cystic fibrosis is distributed as follows:

every fourth child (25%) born to carriers will have a disorder;
every second child (50%) will become a carrier of the defective gene and subsequently will be able to pass it on to their own children, but he himself will not have symptoms of cystic fibrosis;
every fourth child (25%) will not have a violation and will not become a carrier.

It is impossible to get infected with this disease. And there is no one to blame for it. Neither the age, nor the way of life of the mother with the father, nor their bad habits or external circumstances such as ecology or stress do not matter. The role is played only by genes, the dramatic combination of which the parents themselves may not be aware of.

If you want to approach family planning as responsibly as possible, genetic testing can be done before conception to help identify the defect. But this is a psychologically difficult question for Cystic Fibrosis.

What if the analysis shows that both partners are carriers? Refuse to have children altogether? Decide to conceive in order to terminate the pregnancy if the embryo is found to have genetic disorders? Taking risks and giving birth no matter what, knowing the possible consequences? The doctors have no answer for today. Each of the parents-to-be must make a decision on their own.