Cystic Fibrosis: Symptoms, Causes, Treatment
Cystic fibrosis is a severe hereditary disease associated with a specific systemic impairment of the activity of exocrine glands.When they are injured, patients develop pathological symptoms from various body systems.The disease refers to chronic incurable diseases with a progressive course.Table of contents: Cystic fibrosis: general description Causes of cystic fibrosis Cystic fibrosis forms Symptoms of cystic fibrosis How is the diagnosis Treatment of cystic fibrosis Prevention
Cystic fibrosis: general description
If you translate the name of the disease from Latin to Russian, you get "sticky slime" - the phrase, inFully reflecting the nature of the ailment in question.Today several hundred mutations have been found in the gene of cystic fibrosis.In European countries, the incidence rate is 1: 2500.Since cystic fibrosis is a congenital genetic pathology, it is impossible for them to become infected after birth.
However, the disease is found not only in children, but also in adults.This is due to the fact that for quite a long time it can not be symptomatic in any way.In most cases, cystic fibrosis is diagnosed in early childhood.The birth of a child with cystic fibrosis occurs when from each of the parents he gets one mutated gene.When inheriting only one gene, the child does not get sick, but becomes a carrier of the disease.
With the described ailment, all glands of the human body produce a viscous and thick secret that accumulates in the ducts and internal organs, causing their dysfunction. This suffers:
- respiratory system - due to obstruction of bronchial lumen with mucous secretions in cystic fibrosis, the gas exchange process is inevitably disrupted, infectious complications develop, pulmonary hypertension and respiratory failure;
- pancreas - mucus overlaps the ducts of the gland, which leads to the activation of digestive enzymes directly in the pancreas, and not in the intestines, as it should occur in the norm.This contributes to the destruction of the body, the formation of cysts in it, the development of inflammation, the violation of hormonal function;
- liver - due to stagnation of bile, the liver suffers from constant inflammation, its connective tissue grows, the functioning of the organ is disrupted, eventually cirrhosis develops;
- digestive system - the excretory ducts are clogged, the process of food intake is disrupted, it is also possible the violation of intestinal permeability;
- heart - with the described illness, secondary heart damage is often found, as the cardiac muscle with pulmonary hypertension is forced to work with a tripled force.In many patients, heart failure develops over time;
- genitourinary system - men with cystic fibrosis are in most cases infertile.Women also have problems with conception associated with too high a level of mucus viscosity, which the cervix produces.
Modern medicine allows maximally prolong the life of patients with cystic fibrosis.Severe complications leading to progression of the disease and irreversible changes up to a lethal outcome may occur if the medical recommendations are not observed.Children often have a general lag in physical development, while mental abilities remain normal.
Causes of cystic fibrosis
The main cause of the disease is genetic mutations in the seventh chromosome.It is in it is the gene on which the responsibility lies for the synthesis of the protein( the chloride channel) in the glands of external secretion.Why such failures occur, scientists have not yet been able to find out.
Important! With the disease under consideration, the predominantly bronchopulmonary and digestive system is affected.Other organs and systems are also affected, but to a lesser extent.
Pathological processes in the bronchopulmonary system develop due to congestive phenomena in the bronchi.Because of them, the function of cleaning the body of dust and other substances inhaled by a person is broken and active propagation of pathogenic microflora begins.Gradually, the inflammatory process contributes to the suppression of the protective function of bronchial tissue, the skeleton of the organ itself collapses, the lumen of the bronchial tree narrows, which further aggravates the stagnation of the viscous secretion.
If we consider the mechanism of involvement of the gastrointestinal tract, then during the fetal development period the formation of endocrine glands is delayed.The pancreas deforms, produces an excessively thick mucus that clogs the ducts of the organ.As a result, digestive enzymes are activated directly in the organ itself, than gradually destroy it.
Forms of cystic fibrosis
The disease can have many manifestations with varying degrees of severity. The classification of cystic fibrosis includes the following forms:
- pulmonary form - is diagnosed in approximately 20% of cases and is characterized by lung damage.Most often, the illness is revealed in the first years of a baby's life, because of lack of oxygen, symptoms of violations from almost all internal organs;
- intestinal form - occurs in approximately 10% of patients.The first signs of this type of cystic fibrosis are noted, as a rule, at the age of six months, when the child is transferred to artificial nutrition.He does not properly digest food, develops hypovitaminosis, there are violations of stool and obvious signs of a lag in physical development;
- mixed form - is diagnosed most often( approximately in 70% of patients) and is characterized by a simultaneous lesion of bronchopulmonary system and gastrointestinal tract;
- erased forms - can manifest bronchitis, sinusitis, infertility in men and women, cirrhosis of the liver;
- meconial ileus - obstruction of the intestines in newborns, caused by obstruction of meconium of the terminal ileum.
Symptoms of cystic fibrosis
The symptoms of the disease may vary depending on many factors, in particular age, the time of appearance of the first clinical signs, the duration of the course, etc.
When the pathological process spreads to the bronchopulmonary system in children after the termination of breastfeeding,
- has a persistent cough with the release of viscous sputum;
- slight increase in temperature in the absence of signs of acute intoxication of the body;
- if secondary infection occurs, severe pneumonia may occur, accompanied by fever, shortness of breath, severe cough, signs of intoxication( nausea, vomiting, dizziness, etc.);
- with all this, the child badly gaining weight, is sluggish and apathetic;
- the chest becomes barrel-shaped;
- worsens the condition of hair and skin;
- has dyspnea, which is exacerbated by physical stress;
- a cyanotic shade of skin.
In patients with secondary heart damage due to impaired gas exchange and feeding of oxygen tissues, heart failure develops in patients with such symptoms of cystic fibrosis as:
- dyspnea, including in complete rest;
- skin cyanosis;
- heart palpitations;
- swelling of the feet.
If the disease affects the exocrine glands of the pancreas, the patient develops a symptom similar to that that appears in the chronic form of pancreatitis.Observed:
- feeling of heaviness in the stomach;
- shingles, which become more intense after consuming fried and fatty;
- frequent episodes of diarrhea.
In children with this genetic pathology, there is a general weakening of immunity, an increased susceptibility to infections.Usually, the lesion affects the gallbladder and liver, so the characteristic icterus of the skin appears already in the late stages.Also, with cystic fibrosis, there are disorders of the genitourinary tract.
Please note! The combination of all the growing clinical manifestations and symptoms of cystic fibrosis almost inevitably leads to disability.Due to frequent exacerbations, patients become weakened, exhausted by the disease.However, with adequate care and competent treatment, people with this disease are able to lead a full life.
The lifespan of these patients is on average twenty to thirty years.
is diagnosed Diagnosis of cystic fibrosis involves several important steps.To prevent severe complications of the disease and take measures to improve the living conditions of a sick child will allow early detection of pathology, which is based on the clinical signs of chronic inflammation in the bronchopulmonary system or the corresponding symptoms of gastrointestinal lesions.
For example, the diagnosis of the disease in question includes:
- conducting laboratory tests: a blood test based on the determination of the amount of chloride ions in the pot after injection of pilocarpine, a coprogram, a general blood test, sputum analysis;
- molecular genetic research;
- measurement of anthropometric data;
- Ultrasound - is prescribed for a marked lesion of the heart, gallbladder and liver.
The possibilities of modern medicine also allow conducting prenatal diagnostics - detection of cystic fibrosis and other genetically determined diseases even in the intrauterine period.If the disease is detected at an early stage, the question is raised about the artificial termination of pregnancy.
Treatment of cystic fibrosis
As already mentioned, cystic fibrosis is an incurable disease, but competent supportive therapy can greatly facilitate and prolong the life of patients.
Please note! Treatment for cystic fibrosis is symptomatic, and it should be conducted throughout life.Interruption of therapy is fraught with rapid progression of the disease with the development of severe complications.
It is extremely important for all patients to take as a rule:
- regularly clean bronchuses from viscous secretions;
- to carry out prophylaxis, which will protect the bronchi from the multiplication of pathogens in them;
- constantly strengthen immunity;
- to deal with the state of stress, which inevitably arises from a grueling struggle with the ailment.
Treatment is necessary, both in acute periods and during periods of remission.
In inflammatory processes in affected organs, the following is prescribed:
- Drugs from the group of antibiotics;
- glucocorticosteroids are hormone-based drugs( prednisolone) that help cope with infectious processes and inflammations.They are prescribed only in severe cases, when the patient has a blockage of the airways;
- oxygen therapy;
- physiotherapy and inhalation.
If gastrointestinal disturbances are detected, therapy is needed to improve the process of digestion.Patients are assigned a special high-calorie diet.Children under the age of one, usually recommend special nutritional supplements.Also, drugs are prescribed to improve liver function.
Important! Cystic fibrosis necessarily treats all chronic infectious foci, be it a common runny nose or tooth decay.
And although medical scientists have not found an effective drug that can completely cure of cystic fibrosis, they have developed special techniques that greatly facilitate the well-being and can be performed even by patients themselves.The most significant way to treat cystic fibrosis was the so-called kinesitherapy, which consisted in the regular execution of a number of exercises and procedures that improve lung ventilation.Kinesitherapy includes postural and vibrational massage, as well as the practice of an active breathing cycle with positive exhalation pressure.
The most radical method of treatment is surgery for lung transplantation.Transplantation is able to stabilize the patient's condition only when the remaining organs and systems were not affected by the lesion.After the operation, drugs that oppress the immune system are prescribed, which helps to avoid rejection of the transplanted organ.Surgery itself is very complicated and time-consuming, and its successful implementation does not exclude the need for lifelong treatment of cystic fibrosis.
With regard to the prevention of cystic fibrosis, one of the most important measures to prevent morbidity is prenatal diagnosis, which can detect the presence of a defect in the seventh gene before the onset of labor.To strengthen immunity and improve living conditions, all patients need careful care, adequate nutrition, hygiene, moderate physical activity and the provision of the most comfortable living conditions.
Chumachenko Olga, pediatrician