Cystic fibrosis( Cystic fibrosis) - Causes, symptoms and treatment. MF.
Cystic fibrosis is a systemic hereditary disease in which a mutation of the protein involved in the transport of chloride ions through the cell membrane arises, resulting in disorders in the functioning of the glands of external secretion. These glands secrete mucus and sweat. Slime produced by glands of external secretion plays a very large role, this substance is necessary for moistening and protecting individual organs from drying out and infecting harmful bacteria, which is a mechanical barrier.
In cystic fibrosis, the mucus becomes dense and sticky, it accumulates in the excretory ducts of the bronchi, the pancreas and clogs them. This leads to the multiplication of bacteria, as the purifying function disappears. This disease is also called cystic fibrosis( CF) due to the development of cysts at the site of the ducts and glands. Cystic fibrosis affects mainly organs such as the lungs, pancreas, intestines, paranasal sinuses.
Cystic fibrosis became known in the medical community for the first time since 1930, as the leading cause of death among the population of the Caucasus. In general, until the mid-60s it was believed that this disease is typical for Caucasians, but according to statistics, 1 in 25 Europeans are also carriers of the disease gene. The World Health Organization has concluded that in the countries of the European Union there is a ratio of 1 to 2,000-3,000 infants who are cystic fibrosis patients.
The first description of cystic fibrosis was made by the American physician Dorothy Andersen in 1938, which revealed the characteristic changes in the lungs and pancreas during the autopsy of children who died in early childhood.
It should be noted that this hereditary disease is not accompanied by developmental or mental inferiority. Among the most famous people who had this disease, is the famous French singer Gregory Lemarchal( 1983-2007).The singer, who did not live up to his 24th birthday just 2 weeks, but managed to release more than 5 albums and win many prestigious music awards, conquered a huge number of people with his voice. In his honor in June 2007, the Association Against Cystic Fibrosis named after the singer - "Association Gregory Lemarchal" was officially registered.
Causes of cystic fibrosis.
Cystic fibrosis is a disease caused by a defect of a single gene that controls the movement of salts in the body. The gene of cystic fibrosis is located in 7 pairs of chromosomes, and for the development of the disease it is necessary that the child obtain this gene from both parents.
Children born with only one pair of cystic fibrosis chromosomes are carriers. These people have no signs of disease, but they can inherit this gene. American scientists estimated that at present there are approximately 12 million people among the population of the United States. In Russia, there is no such data, but we can draw an analogy with American studies and conclude that approximately every 9 people are carriers of this gene, without clinical manifestations. If two KF carriers want to have a child, then statistically 1 out of 4 possible children will have cystic fibrosis.
Symptoms of cystic fibrosis
Symptoms and symptoms of cystic fibrosis can range from minor manifestations to a severe clinical picture. Sometimes only a few symptoms may appear, after a while, others may appear or be strengthened already.
The first thing that parents can notice is the salty taste of the skin when they kiss their child. Or prolonged absence of defecation in the child. Most other signs begin to appear much later, and will depend on how the CF gene affects the respiratory, digestive and reproductive system of the body.
The accumulation of a thick secretion in the lumen of the bronchi
The defeat of the bronchopulmonary system is characterized by the accumulation of thick viscous sputum in the lumen of the bronchi, which causes their reflex contraction. The accumulation of mucus creates favorable conditions for reproduction of the opportunistic pathogenic flora. The infection also blocks the airways, thereby causing a cough. Patients with cystic fibrosis are usually prone to infections that are resistant to many known antibiotics, so getting rid of the pathogen can be very difficult. As a result, pneumonia or bronchoectatic disease may develop. Very often, the upper respiratory tract is exposed to infections with the development of sinusitis and frontitis. Coughing, wheezing, periodic fever, asthmatic attacks will occur almost constantly.
In the digestive system, the thick secret of the pancreas, containing a huge number of enzymes that help us digest food, does not enter the small intestine where the enzymes should be activated. As a result, the intestine does not absorb proteins, fats and carbohydrates. This can cause a permanent, loose stool. Abundant gas formation due to intestinal fermentation leading to swelling and pain in the abdomen.
Children born with cystic fibrosis do not gain weight properly and grow poorly.
With age, pathological changes in the digestive system begin to deteriorate, and develops: pancreatitis is a condition in which the pancreas becomes inflamed, causing pain, liver disease, diabetes and gallstones.
The reproductive system of both men and women suffers to a great extent. Men with cystic fibrosis become infertile as a result of the lack of ducts, through which the sperm enters from the testicles into the penis. Women have difficulty in conception as a result of increased viscosity of mucus in the uterine cavity.
There are also systemic changes in the body. Due to the increased release of salt from the body, an imbalance in the mineral composition of the fluids, in particular in the blood, occurs. Since the release of salts from the body occurs with water in the sweat, dehydration may develop, which leads to rapid heart rate, fatigue, and lowering blood pressure. The mineral metabolism in the bones is broken, which leads to osteoporosis and brittle bones.
Diagnosis of cystic fibrosis.
There are several ways to diagnose the presence of cystic fibrosis. An important aspect is the correctly collected history of life, diseases that are characteristic of the family. Whether relatives had signs that are characteristic of cystic fibrosis, and to what extent. The genetic method can be used in any age group and with high accuracy will determine the presence or absence of the gene. The material for genetic analysis can be taken by anyone, since DNA is subjected to research. In most cases, PCR diagnostics and karyotyping are used, allowing a fairly accurate diagnosis. Test for immunoreactive trypsin. The test is fairly accurate, but used in children only the first month of life. The test method allows to determine the level of trypsin in the blood of the child, if it is increased 5 to 10 times, the diagnosis can be assumed, but not accurate. Since this level of enzyme can increase in children with Edwards syndrome, deeply premature babies and children who were born with asphyxia in childbirth.
The sweat test determines the concentration of sodium and chlorine ions in human sweat with an estimated diagnosis of cystic fibrosis. Pilocarpine is injected into the skin of the test with the help of weak current by the iontophoresis method, under the influence of which sweat begins to be generated. It is collected and the ion concentration is measured. Children with no mutation of the protein responsible for transport of chloride ions have a concentration of not more than 40 mmol / l.
Additional diagnostic test methods play an important role in the diagnosis. In cystic fibrosis, there are pathognomonic changes in the radiographic pattern of the lungs( deformation of the pulmonary pattern in the form of cystic changes in the bronchial tree, emphysema enlargement of the lung tissue and infiltrative changes).When endoscopic examination of the bronchi determined abundant concentrations of high-viscosity mucus, enlargement and thinning of the bronchial wall, decrease and widening of the lumen, and signs of chronic bronchitis. Spirographic studies indicate abnormalities of breathing according to the obstructive-restrictive type. Disorders of the pancreas will manifest signs of non-absorption of fat and frequent vomiting. Duodenal probing with pancreatic secretion will show the absence of enzymes in the active phase.
Treatment of cystic fibrosis
Cystic fibrosis can not be cured once and for all. However, symptomatic treatment has progressed significantly in recent years.
During the treatment it is necessary to pursue the following objectives: prevention and control of infectious diseases of the lungs, timely sanitation of the bronchial tree from thick mucus, preventing the development of pathology of the digestive tract, ensuring sufficient and balanced nutrition, and minimizing the risk of dehydration of the body. To achieve the best effect of therapy, it is necessary to observe several specialists: pulmonologist, gastroenterologist, physiotherapist and nutritionist.
For the removal of mucus from the bronchial tree came up with several effective ways. The first is physical exercises aimed at improving the overall blood circulation. Patients are recommended active sports( fitness, athletics, dancing), but not in any case not professional. Breathing exercises in a certain position - head down - helps drain the bronchi under the influence of gravity and respiratory vibrations. Rhythmic, controlled punches to the chest area also contribute to an easier sputum discharge.
Medical treatment includes several groups of drugs aimed at all links of the symptom complex in cystic fibrosis. Mucolytics are drugs that help liquefy phlegm. One of the most famous and effective drugs is "ACTS" or Acetylcysteine.
Antibacterial drugs are the main means of fighting against pulmonary infection. In this pathology, various groups are used( cephalosporins 2 to 3 generations, respiratory fluoroquinolones).Taking medications internally is used to treat mild infections. Inhalation antibiotics can be used to prevent or control infections caused by Pseudomonas bacteria.
Anti-inflammatory drugs can help reduce airway swelling due to a long-lasting infection. The bronchodilators affect the lumen of the bronchi and help relax the bronchial muscles. This group of drugs is often used by inhalation. With the development of a more severe degree, oxygen therapy may be necessary. This treatment is carried out with the help of mask oxygen.
The most radical treatment for cystic fibrosis is a lung transplant from a deceased donor.
Oxygen therapy in a patient with cystic fibrosis
If the pancreatic function of is insufficient, enzyme preparations such as Creon may be required. It is a drug containing enzymes in a certain dosage and helping to compensate for the lack of their own enzymes.
Ataluren or PTC124 in cystic fibrosis
PTC Therapeutics is a new low molecular weight substance used in the treatment of patients with cystic fibrosis, hemophilia, and Duchenne myodystrophy.
The drug Ataluren or PTC124 is now in Phase 3 clinical trials. In 2010, a recruitment of patients 6 years and older in a 48-week study was completed, the aim of which is to confirm the improvement in lung function when it is used.
PTC Therapeutics is used in the treatment of patients with cystic fibrosis, hemophilia, Duchenne myodystrophy who have nonsense mutations. In a Phase 1 trial with a single dose of the drug on healthy volunteers, it was demonstrated that it is safe, taken orally and well tolerated. Phase 2 trial in CF patients, conducted in the US and Israel, demonstrated safety and improvement of biological indicators( cff.organ).
Kalydeco ™ received FDA approval on January 31, 2012 for people with cystic fibrosis aged 6 years and older with a G551D KF mutation.
Prognosis for cystic fibrosis.
The prognosis for this pathology is not very favorable. Lung function often begins to decline in early childhood. Over time, lung damage can cause serious breathing problems. Respiratory failure is the most common cause of death in people with cystic fibrosis.
Timely treatment begun improves prognosis. With the right way of life and observance of all medical recommendations, people with cystic fibrosis survive on average to 50 years.
Doctor therapist Zhumagaziev E.N.