Everything you need to know about cystic fibrosis
Cystic fibrosis is a life-threatening disease, an ailment that is inherited. People who suffer from it usually live shorter lives than healthy people. A little over 60 years ago, children diagnosed with cystic fibrosis died before reaching primary school age.
- 🩺 Cystic fibrosis - what is this disease?
- 🤰 Main symptoms
- ⭐ How is cystic fibrosis treated?
- 💊 Causes of the disease
However, thanks to advances in medicine and pharmacy, now, they can live relatively normally up to 30-40 years and even more. In the United States, more than 30 thousand people suffer from the disease. And every 12 months, 1 thousand more for registration due to illness. Of these, 75% of cases occur in babies under 2 years old. Cures for cystic fibrosis have not yet been invented.
So that children are guaranteed not to receive such a disease as a hereditary gift, there are reproductive innovations. Such as IVF and genetic screening of the embryo, which are used in programs for a fixed price without any additional payments at Feskov Human Reproductive Group.
Cystic fibrosis - what is this disease?
The disease has a chronic course and a genetic nature. Most often, the lungs and the digestive system are affected. But, with a poor prognosis, the liver and pancreas may be involved, provoking the development of diabetes.
A special defective gene is responsible for cystic fibrosis, which provokes the formation of viscous mucus. It is very difficult to cough up her from the lungs. This negatively affects breathing and leads to severe lung infections.
Mucus contributes to dysfunction of the pancreas, which leads to inadequate production of enzymes that break down food. This causes digestive problems and, as a result, leads to malnutrition.
Male infertility can also be caused by an increased concentration of mucus that blocks the vas deferens, which carry sperm from the testes into the urethra.
Cystic fibrosis is a serious illness with consequences that threaten human life and health. Most often, such patients go to another world due to respiratory failure.
What are the most common manifestations of cystic fibrosis:
- skin with a touch of salt;
- chronic cough reflex;
- breathing that is constantly interrupted;
- low body weight, although the appetite is too high;
- strong fatty stools;
- polyposis formations in the nose in the form of fleshy folds.
Since the disease is characterized by obstructive moments, the likelihood of lung infections - pneumonia and bronchitis increases. Because with obstruction in the lungs, a favorable environment is created for the reproduction of pathogenic microorganisms.
An obstructive factor on the pancreas leads to inadequate absorption of nutrients, which contributes to stunted growth, diabetes and osteoporosis.
How is cystic fibrosis treated?
With all the advances in medicine, there is still no cure for cystic fibrosis. However, correct and timely treatment helps to cope with the symptoms of ailments, and provide an opportunity to improve the quality of life. Since the symptoms of the disease are different, treatment plans will also differ from each other.
The most important task in lung damage is to clear the airways of viscous mucus. This not only ensures clean breathing, but also minimizes the risk of lung infections.
Various cleaning methods such as postural drainage and percussion help loosen mucus and expel it from the lungs. In this case, the doctor will tap the patient's back and chest while sitting or lying down.
Inhaled aerosols and inhalers are also effective. They thin phlegm, kill pathogens, and push mucus out of the lungs.
Antibiotic therapy (oral, intravenous, inhaled) is an important part of a regular course of treatment. Recently, the beneficial properties of ibuprofen and azithromycin have been discovered to improve lung function. They have now become part of the routine treatment protocol for people with cystic fibrosis.
To reduce the likelihood of developing a secondary infection in the lungs, you need to:
- wash your hands as often as possible;
- vaccinate against influenza annually;
- do not smoke yourself and do not be a passive smoker;
- reduce contact with sick people.
There are other, alternative forms of treatment for cystic fibrosis. For example, special implanted devices that provide constant access to the circulatory system for regular medication intake. Which is very convenient if you need frequent admission.
Innovative drugs targeting 10 mutations of the damaged gene - modulators of transmembrane conductance regulators - harmonize the water-salt balance in the lungs. This helps to thin the mucus accumulated in the lungs. Modulator Kalideco is approved for use in babies from 2 years old, and Orkambi brand is effective for children from 6 years old.
Since the disease affects the digestive function and the absorption of nutrients from food, it is necessary to establish an appropriate diet, which is advised by a nutritionist. Pancreatic enzymes, salt, vitamins, and other supplements will balance the absorption of nutrients from food.
Because cystic fibrosis can cause growth and developmental disorders, sick children need a high-calorie, high-fat diet. It can also help adults maintain normal health. A good, varied, nutritious diet is vital for those suffering from cystic fibrosis. To successfully defend against the high risk of contracting a lung infection.
Causes of the disease
Cystic fibrosis is not a contagious disease. This is a purely hereditary pathology. For a child to be diagnosed with the disease, both parents must be carriers of the defective gene.
The defective gene contains codes for the production of a protein that controls the secretion of salt and water through certain organs, such as the lungs or the pancreas. Thus, salt balance is violated in the body, which entails insufficient volumes of water and salt in the cells. The result is a lot of thick, viscous mucus.
Carriers are individuals who have only one copy of this defective gene. Therefore, they have no manifestations and they do not get sick. For a child to get sick, both carrier parents are needed.
What is the likelihood of a child becoming sick with cystic fibrosis with both parents who are carriers of the gene:
- 25% or 1 chance in 4 - the probability of being sick;
- 25% - will not be sick or a carrier;
- 50% or 1 in 2 chance that the baby will be a carrier, but will not get sick.
Thus, more than 10 million native people in the United States are carriers of the disease, but are not aware of it.
In the United States, all babies are screened for cystic fibrosis at birth. This is done by doing a small tissue test or blood test.
The simplest test for ailment is sweat testing. Doctors simply collect sweat and determine the level of chloride in its composition. If it is tall, it may indicate cystic fibrosis.
Genetic tests are required if a disease is suspected, when the sweat test does not give a clear picture. To do this, a tissue sample is taken from the cheek and blood. Such testing also makes it possible to determine whether the patient is a carrier of the defective gene or not.
Geneticists have identified over 1,700 mutations of a defective gene that causes cystic fibrosis. However, as a result, testing is done to check for the most common mutations.
It is known that 75% of cases of morbidity occur before the age of 2 years.
Hence, a natural question arises - what are the prospects for patients with cystic fibrosis? Now, such patients live on average about 40 years. Their lifespan is determined by the severity of the disease, the age at which the diagnosis was made, and the type of mutation in the damaged gene.
If the patient looks after himself, regularly undergoes treatment courses, leads a healthy and active lifestyle, then you can live a relatively normal, busy life.
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