Cystic fibrosis ( cystic fibrosis) - Causes, Symptoms and Treatment .MF .

August 12, 2017 17:52 | Congenital Anomalies

Cystic fibrosis - a hereditary systemic disease in which there is a mutation of the protein involved in the transport of chloride ions across the cell membrane, so that there are irregularities in the exocrine glands.These glands secrete mucus and sweat.Mucus produced by the glands of external secretion, plays a very important role in this matter is necessary to moisten and protect the individual organs from drying out and contamination with harmful bacteria, which is a mechanical barrier.

In cystic fibrosis mucus becomes thick and sticky, it accumulates in the excretory ducts of the bronchi, pancreas and clogs them.This leads to the growth of bacteria as well as the cleaning function disappears.The disease is also known as cystic fibrosis (CF) due to the development of cysts on the site of ducts and glands.Cystic fibrosis affects mainly bodies such as the lungs, pancreas, intestines, sinuses.Cystic fibrosis

first became known in the medical community since 1930, as the leading cause of death among t

he Caucasian population.In general, until the mid 60's it was thought that this disease is characteristic for the inhabitants of the Caucasus regions, but statistics show 1 in 25 Europeans are also carriers of the disease gene.The World Health Organization has concluded that the European Union has a ratio of 1 to 2,000-3,000 babies who are cystic fibrosis patients.

first description of cystic fibrosis has made American doctor Dorothy Andersen in 1938, which at the time of opening of the children who died in infancy, found characteristic changes in the lungs and pancreas.

It should be noted that that this hereditary disease is not accompanied by developmental delays or mental disability.Among the most famous people who have had this disease, it is a famous French singer Gregory Lemarchal (1983-2007).Singer, not lived up to its 24th anniversary only 2 weeks, but had time to produce more than 5 albums and won numerous prestigious music awards, his voice subdued huge number of people.In his honor, in June 2007, it was officially registered association against cystic fibrosis name singer - «Association Gregory Lemarchal».

Causes of cystic fibrosis.

Cystic fibrosis - a disease caused by a single gene defect, which controls the movement of salt in the body.Cystic fibrosis gene is a 7 pair of chromosomes, and for the development of the disease it is necessary that the child has received the gene from both parents.

Children born with only one pair of cystic fibrosis chromosomes are the carriers.These people do not have symptoms of the disease, but can pass the gene is inherited.American scientists have estimated that currently about 12 million people in the US population are carriers.In Russia, such data are not available, but it is possible to draw an analogy with the American studies and conclude that about one in nine people is a carrier of the gene, without clinical manifestations.If two carriers have a child they want KF is statistically 1 out of 4 children will have cystic fibrosis.

Symptoms of cystic fibrosis

Signs and symptoms of cystic fibrosis can range from minor to severe manifestations of the clinical picture.Sometimes it can appear only a few symptoms, some time may occur or worsen other existing ones.

first thing that parents can notice is the salty taste of the skin when they kiss their child.Or long absence of defecation in the child.Most of the other signs are starting to appear much later and will depend on how the CF gene will affect the respiratory, digestive and reproductive system of the body.

Accumulation of thick secretions in the lumen of the bronchi

defeat bronchopulmonary system is characterized by the accumulation of a thick viscous mucus in the lumen of the bronchi, which causes them a reflex contraction.Accumulation of mucus creates favorable conditions for the reproduction of conditionally pathogenic flora.Infection and blocks the airway, thereby inducing cough.Patients with cystic fibrosis are generally susceptible to infections that are resistant to many known antibiotics, so to get rid of the pathogen can be very difficult.As a result, may develop pneumonia or bronchiectasis.Very often exposed to infections and upper respiratory tract with the development of sinusitis and sinusitis.Coughing, wheezing, intermittent fever, asthma attacks will occur almost constantly.

In the digestive system, thick secretion of the pancreas, containing a huge amount of enzymes that help us digest food, does not fall into the small intestine, where enzymes need to be activated.As a result, not absorbed in the intestine proteins, fats and carbohydrates.This can cause permanent, loose stools.Excessive flatulence due intracolonic fermentation, resulting in swelling and pain syndrome in the abdomen.

Children born with cystic fibrosis, not gaining weight properly and do not grow.

age, pathological changes in the digestive system begin to deteriorate, and develops: pancreatitis - a condition in which the pancreas becomes inflamed, causing pain, liver disease, diabetes and gallstones.

reproductive system, both men and women suffer to a great extent.Men with cystic fibrosis are infertile due to the absence of ducts through which sperm passes from the testicles to the penis.In women having difficulty conceiving due to increased viscosity of mucus in the uterus.

arise as and systemic changes in the body.Due to increased release from the body then it occurs salts development imbalance mineral composition of liquids, particularly blood.Since the body of salt water yield occurs in a part of sweat, dehydration may develop, which will cause heart palpitations, fatigue, lowering blood pressure.Disrupted bone mineral metabolism, which leads to bone fragility and osteoporosis.

The diagnosis of cystic fibrosis.

diagnose the presence of cystic fibrosis in several ways.An important aspect is properly collected history of life, the disease, which are characteristic of the family.Do you have relatives traced signs characteristic of cystic fibrosis, and to what extent.A genetic method can be used in any age group and accurately detect the presence or absence of the gene.The material for genetic analysis can be taken either as the study of DNA is exposed.In most cases, PCR diagnosis and karyotyping, allowing precisely enough to establish the diagnosis.

test immunoreactive trypsin. test fairly accurate, but is used in children just the first month of life.The technique allows the test to determine the level of blood in the child trypsin if it increased 5 - 10 times, the diagnosis can be assumed, but no supply with accuracy.Since the level of the enzyme may be increased in children with Edwards Syndrome, very preterm infants and children who were born with birth asphyxia.

sweat test determines the concentration of sodium and chloride ions in the sweat of a man with a suspected diagnosis of cystic fibrosis.Pilocarpine using low current iontophoresis method is introduced into the skin of the test, under the action of which begins to produce sweat.It was collected and measured ion concentration.Children with the absence of protein mutation responsible for the transport of chloride ions have a concentration of 40 mmol / l.

an important role in diagnosis techniques play an additional diagnostic tests.In cystic fibrosis there are pathognomonic radiographic changes in the lungs (pulmonary deformation pattern in the form of cystic changes of the bronchial tree, emphysematous expansion of lung tissue, and infiltrative changes).When the bronchi endoscopic study determined excessive accumulation of highly viscous mucus, expansion and thinning of the bronchial wall, reduction and expansion of the lumen, and the symptoms of chronic bronchitis.Spirographic studies indicate breathing disorders by obstructive-restrictive type.Disorders of the pancreas work will not show signs of assimilation of fats and frequent vomiting.Duodenal intubation with a fence pancreatic secretions show lack of enzymes in the active phase.

Treatment of cystic fibrosis Cystic fibrosis

can not be cured once and for all.However, symptomatic treatment has advanced considerably in recent years.

During treatment it is necessary to pursue the following objectives: the prevention and control of infectious diseases of the lungs, timely readjustment of the bronchial tree of thick mucus, preventing the development of diseases of the digestive tract, adequate and balanced diet, and minimizing the risk of dehydration.To achieve the best effect of the therapy should be monitored by several specialists: pulmonologist, gastroenterologist, physiotherapist and nutritionist.

to remove mucus from the bronchial tree come up with some effective ways.First - this exercise, aimed at improving the general circulation.Patients recommended for active sports (fitness, athletics, dance) but not in any way a professional.Breathing exercises in position - upside down - bronchi helps drain under gravity and respiratory vibration.The rhythmic, controlled punches in the chest area also contributes to easier sputum discharge.

Medication includes several groups of drugs, aimed at all the links of symptoms in cystic fibrosis.Mucolytics - promoting drugs to liquefaction of sputum.One of the most known and effective drug is the "ACC" or acetylcysteine.

Antibacterials are the main means of dealing with a lung infection.In this disease, various groups (cephalosporins 2 - 3 generations, respiratory ftorhinalony).Oral treatment is used to treat lung infections.Inhaled antibiotics can be used to prevent or control infections caused by bacteria Pseudomonas.

Anti-inflammatory medications can help reduce swelling of the airways due to long flowing infection.Bronchodilators affect the lumen of the bronchi and help relax the bronchial muscles.This group of drugs commonly used inhalation.With the development of more severe degree may be needed oxygen.This treatment is carried out by using the mask oxygen.

most radical method of treatment of cystic fibrosis is transplantation lungs from a deceased donor.

Oxygen therapy in a patient with cystic fibrosis

case of insufficient pancreatic function may require the appointment of enzyme preparations such as "Creon".This preparation containing the enzymes in a certain dosage, and help compensate for the lack of its own enzymes.

Ataluren or drug PTC124 in cystic fibrosis

PTC Therapeutics - new low-molecular substance used in the treatment of patients with cystic fibrosis, hemophilia, DMD.

Ataluren or drug PTC124 nahoditya currently in phase 3 clinical trials.In 2010, it completed a set of patients 6 years of age and older in the 48 week study, the aim of which is to confirm the improvement in lung function in its application.
PTC Therapeutics used in the treatment of patients with cystic fibrosis, hemophilia, DMD having a nonsense mutation.The Phase 1 trial with the single dose of the drug in healthy volunteers have demonstrated that it is safe, it is taken orally and is well tolerated.Test Phase 2 CF patients conducted in the United States and Israel demonstrated safety and improvement of biological indicators (cff. Org).

Kalydeco ™ received FDA approval 31 January 2012 for people with cystic fibrosis aged 6 years and older with the G551D mutation in the CF.

prognosis for cystic fibrosis.

outlook is not very favorable for this pathology.Lung function decline often begins in early childhood.Over time, damage to the lungs can cause serious respiratory problems.Respiratory failure is the most frequent cause of death in people with cystic fibrosis.

timely treatment improves the prognosis.With the right lifestyle and compliance with all medical recommendations people with cystic fibrosis live to an average of 50 years.

therapists Zhumagazy EN