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Cystic Fibrosis

Cystic Fibrosis

  1. What is cystic fibrosis?
  2. How is cystic fibrosis inherited?
  3. The mechanism of developing key symptoms
  4. Forms and signs of the disease
  5. Cystic fibrosis in children
  6. Diagnostics
  7. Principles of treatment
  8. Micrasim in treating cystic fibrosis
  9. Prognosis and prevention

Nowadays, hereditary diseases, caused by various disorders in the genetic material, are getting increasingly important. This is mainly due to the accumulation in the population of recessive mutations in autosomal (non-sexual) chromosomes. One of these diseases is cystic fibrosis (mucoviscidosis). It is sometimes also referred to as cystic fibrosis, congenital enterobrochopancreatic dysporia, a syndrome of a salt child.

Cystic fibrosis is considered the most frequent pathology among all hereditary diseases of a monogenic nature. And it happens primarily in representatives of the European race. The prevalence of this disease varies in different regions and averages 1 case per 2-4.5 thousand newborns.

What is cystic fibrosis?

What is cystic fibrosis?

Cystic fibrosis is a chronic hereditary disease featuring persistent increasing viscosity of secretion of glandular cells with secondary cystic regeneration of affected structures and organs. This moment is reflected in the name: mucos translated from LAtin as "slime", viscidus - as "sticky". And the ending -osis is used to refer to the non-inflammatory nature of the pathological process.

Cystic fibrosis is a disease with proven hereditary nature. The cause of all the disorders occurring is one gene mutated in the middle of the long arm of the 7 somatic (autosomal) chromosome. It is called SFTR (cystic fibrosis transmembrane regulator), which is translated as a transmembrane regulator of the conductivity of sodium and chlorine ions. This gene encodes a structure of particular protein, which is the basis of the chlorine and some other ion channels in the epithelium. Therefore, key moment of the disease is transport function disorders of the cell membranes with the predominant lesion of external secretion glands. But organs of internal secretion (endocrine, hormonally active) are not involved in the pathological process.

Performing SFTR gene has no time limits, it functions throughout the life cycle. But timing of appearing symptoms and their severity can be different. It depends mainly on the mutation type. Currently, more than 1600 of its variants are known, and the frequency of occurrence of each of them differs in various regions worldwide.

How is cystic fibrosis inherited?

The features of inheritance of cystic fibrosis include:

  • SFTR mutation is recessive. This means that a person with a normal gene in the paired chromosome will not have any symptoms of cystic fibrosis. There are a lot of people in the population. They are carriers of the disease and can transfer its pathological gene to their children
  • Gene transfer is not related to the gender, so the likelihood of the disease appearing in boys and girls is the same.
  • A child will have cystic fibrosis only if he inherits 2 defective genes at once. This is possible if both parents have at least one chromosome mutated in the relevant area. The probability of a sick baby born can be different in this case (see the table).
  The mother is healthy (both chromosomes without mutation) Mother carrier (one mutant gene, another normal) Mother suffers from cystic fibrosis (both mutant genes)
The father is healthy (both chromosomes without mutation) In 100% cases, babies are healthy. Probability of a baby-carrier born is 50%, probability of a carrier born is 50%. The probability of a sick baby born is 0%, all the babies will be the carriers
Father carrier (one mutant gene, another normal) Probability of a baby-carrier born is 50%, probability of the carrier born is 50%. 25% is the probability of a sick baby born, 25% is the probability of a healthy one born, 50% is for the carrier Probability of a sick baby born, 50% is the probability of the carrier born
The father is sick with cystic fibrosis (both mutant genes) Probability of a sick baby born is 0%, all the babies will be carriers Probability of a sick baby born is 50%, the probability of the carrier born is 50%. All the babies will be ill with cystic fibrosis

The probability of a baby born featuring cystic fibrosis is affected only by the fact the parents have an anomalous SFTR gene. The mutation nature (type) does not matter.

The mechanism of developing main symptoms

The mechanism of developing main symptoms

If a person has 2 anomalous SFTR genes, a functionally inferior protein of the chlorine-ion transmembrane channel is synthesized in his/her body. This leads to a cascade of irreversible and prone to progression disorders:

  • Disorder in transporting chloride ions accumulated in the cytoplasm of glandular cells. This entails changing membrane potential and worsens performing other ion channels, primarily the sodium channel.
  • Increasing concentration of sodium ions in the cells leads to a big "intake" of water from the nearby circumcellular space. And since cystic fibrosis affects the glandular cells, the liquid starts being absorbed from the secret oozed by them. This process is compensated for in no way and causes gradual developing secondary irreversible changes in the organs.
  • Excessively thick and viscous secret tends to stagnate, which leads to obturation of the excretory tubule, duct and bronchi lumens. And the accompanying inflammation aggravates the situation, up to developing adhesive process and rough scarring. The ducts gradually get impassable.
  • Stagnant secretions contribute to inflammation of the glandular organ and surrounding tissues. Therefore, in cystic fibrosis, bronchopneumonia (as a consequence of bronchial obstruction), pancreatitis (as a result of melting pancreas by its own enzymes), cholangohepatitis (inflammation of the bile ducts and liver) are revealed.

Secondarily, non-iron organs go in the pathological process. For example, bronchopulmonary pathology leads to disrupting cardiovascular system. Enzymatic deficiency due to pancreatitis and inflammation of the intestinal wall causes a decline in the absorption of nutrients, iron and vitamins. If the disease is strong, all organs and brain suffer, that is especially critical in early childhood.

Forms and manifestations of the disease

Cystic fibrosis affects all exocrine glandular formations, regardless of their size. But the severity of pathological changes in various organs is usually different. With this in mind, several clinical forms of the disease are distinguished:

  • Meconial intestinal obstruction. It develops in babies and is caused by an express thickening of primary feces (meconium) in them.
  • Bronchopulmonary form associated with impaired glandular function of the bronchial epithelium and obturation (closing by the mucus) of the ultimate sections of the respiratory system. It is manifested by relapsing bronchopneumonia with forming bronchiectasis and chronic obstructive pulmonary disease. (COPD).
  • Intestinal form, including the picture of pancreatic damage (pancreatitis) with developing enzymatic deficiency.
  • Biliary cirrhosis associated with obstructed biliary tract due to expressed bile thickening.

There are also very "mild" forms of the disease, when the existing disorders do not worsen life quality so bad and do not belong to potentially life-threatening conditions. For example, in men cystic fibrosis can manifest as an isolated obstructive azoospermia in the form of infertility due to the obstruction of the vas deferens. There are abortive forms with lesions of sweat glands, sinusitis, chronic pancreatitis without a tendency to cyst formation, etc.

In clinical practice, the terminology of the international classification of diseases of 10 revision (ICD-10) is used. Cystic fibrosis features cipher E84 and is divided into forms with pulmonary, intestinal and other manifestations. There is also a sub-heading "Unspecified cystic fibrosis". In this case, the doctor has to encrypt only the most serious disorders, because in 70% of cases there is a mixed (pulmonary-intestinal) form of the disease.

When making a diagnosis, they also indicate the severity of the existing disorders and describe the already developed complications.

Cystic fibrosis in children

In more than 90-94% of cases, cystic fibrosis debuts in the first years of a baby's life. Sometimes the symptoms are discovered in a newborn and grow for several days.

The main signs of cystic fibrosis in childhood include:

  • Intestinal disorders due to enzymatic deficiency. Most often, they appear when entering complementary foods. There is a copious unformulated frequent stinking stench with stubborn stool with a lot of fat (steatorrhea), bloating. Soon hypopyvitaminosis develops, iron deficiency anemia. There is a high probability of diabetes mellitus.
  • Propensity to recurrent prolonged complicated pneumonia.
  • Difficulty in swallowing meal which is due to the excessive saliva viscosity and dry mucosa and esophagus. The child tends to drink while having meal.
  • Disturbance of thermoregulation in hot season and in stuffy rooms. This is due to sweating disturbed.

Intestinal and bronchopulmonary forms of the disease in childhood contribute to the retardation of child's physical development, forming chronic multi-organ failure. Intellectual retardation is not typical, although pronounced metabolic disorders can lead to deterioration of performing brain.

Diagnostics

To diagnose cystic fibrosis, the key laboratory tests are run:

  • Immunoreactive trypsin test (in 1-month old babies).
  • A sweat test. It can be performed in the classical Gibson-Cook variation or with the help of modern analyzers.
  • DNA diagnostics. It is used as a screening technique with the blood taken from the baby on a paper filter. If necessary, other variants of genetic research are run, including determining the relatives` genotype.
  • Test E1 (for revealing pancreatic elastase in feces).

To diagnose the existing disorders researchers use a coprogram, chest X-ray, bronchoscopy, FGDs and other techniques. The research program is made individually, taking into account the existing symptoms.

Principles of treatment

The therapy prescribed for cystic fibrosis does not make it possible to liquidate the disease. It only helps correct existing disorders with improving patient's life quality, facilitates symptomatology, helps cope with severe complications and somewhat reduces risk of developing. Gene therapy effecting on the defective gene is still at the stage of developing and clinical approbation.

The main groups of drugs prescribed against cystic fibrosis are:

  • Enzymatic preparations, which are especially beneficial in striking intestinal disease.
  • Multivitamin complexes and particularly fat-soluble vitamins, which compensate for the deficiency of their absorption in the intestine.

Micrasim against cystic fibrosis

Micrasim against cystic fibrosis

The enzymatic medicines applied in treating cystic fibrosis can partially compensate for the lack of proper digestive enzymes. This kind of disorders is present in almost all people suffering from this disease, because a damaged pancreas is its typical manifestation. Special attention requires correcting lipase level, the enzyme providing adequate digestion of fats in the small intestine. For this purpose, Micrasim is prescribed to treat cystic fibrosis.

The expected clinical effects of this therapy include:

  • Improved assimilation of basic nutrients, reduced probability of nutritional malnutrition.
  • Reducing risk of diarrhea associated with insufficient fat digestion.
  • Decreased intestinal discomfort caused by increased gas production and peristalsis on the backgorund of enzymatic deficiency.

Micrasim can be applied to treat 1-year old babies suffering from cystic fibrosis. In this case, the drug is prescribed in the form of capsules. The dosage is determined by the doctor taking into account severity of the steatorrhea and baby`s age.

Prognosis and prevention

Previously, mainly pediatricians came across with manifestations of cystic fibrosis, this disease was considered "childish". Currently, this pathology is often discovered in adults, that is explained by the increased solutions of modern pharmacology. The drugs used partially compensate for the impaired secretory functions of the mucous membrane of the bronchial tree and pancreas. If the prescribed therapy is proper, a baby/child suffering from cystic fibrosis has a chance of growing up.

 

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