Cystic Fibrosis: Symptoms, Treatment, Causes, Diagnosis

What is it - cystic fibrosis or cystic fibrosis refers to the most serious genetic diseases that cause severe clinical manifestations, characterized by violations in the functions of bronchopulmonary, hepatobiliary, digestive, reproductive and other systems.

Pathological processes in the organs of various systems are of the same type:

• the formation of sclerosis;
  
• formation of cysts;
  
• foci of inflammatory processes.

Cystic fibrosis of the digestive( pancreatic) gland manifests itself:

• diffuse fibrosis;
  
• cystic lesions in pancreatic ducts;
  
• starting phlegmon;
  
• increased pancreatic islets.

Pathologies in the digestive tract are characterized by:

• cystic dilatations in the villous shell of the intestinal wall;
  
• by the accumulation of goblet cells causes expansion of the globular shape;
  
• fibrogenesis of surrounding tissues.

Changes in the liver are expressed:

• development of fatty capsules under the kidney and between its lobes;
  
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• is a manifestation of Caroli's disease( dilated ducts) in the intrahepatic ducts
  
• , a sign of protein dystrophy and steatosis
  
• by hyperplasia and artesia of the biliary system of the gallbladder.

In bronchopulmonary system manifestations of cystic fibrosis are expressed:

• pneumosclerosis with emphysema foci;
  
• by zones of obturation atelectasis;
  
• sclerotic changes in pulmonary vessels;
  
• muco-purulent lesions of bronchioles;
  
• by enlarging bronchial glands filled with sputum with bulging elements;
  
• pathological processes in the lung tissue;
  
• with pneumosclerosis of alveolar septa.

Causes of cystic fibrosis

How does cystic fibrosis develop and what is this disease? At the heart of the disease is a gene mutation, as a result of which there is no synthesis of the protein, which is the link between the outer and inner surface of the cell membranes, which is the reason for the violations in the transmembrane regulation of cystic fibrosis conduction.

The causes and mechanism of the incidence of cystic fibrosis is determined by three causative factors:

1. 1) Exocrine function disorder - causes the production of viscous sputum with increased protein and electrolytes with reduced ionic conductivity. Too much of the sputum structure causes blockages in the ducts of the glands, causing them to expand, subsequently, as a rule, cystic forms are formed, which are often prone to infection.
   
2. 2) Electrolyte pathologies - are characterized by an increased content of calcium mineral in the exocrine secret. In many fragments, an excess of elements of sodium chloride accumulates.
   
3. 3) Mucopolysaccharides( in the form of mucus) accumulate in fibrilliform cells of connective tissue and produce polypeptides( neuropsychiatric cytokines) responsible for maintaining the vital functions of neuromuscular tissues. Cell accumulation of glycosaminoglycans, mucus, causes the Spock factor, characterized by impaired movement of epithelial cilia in the internal membranes of various organs. Early atherosclerosis occurs with lesion of fibroblasts, and the combination of infections and inflammatory foci accelerates the sclerotic process.

Symptoms of cystic fibrosis

Clinical symptoms in cystic fibrosis are manifested depending on the localization of the pathology of severity and severity, age factor and possible complications. The disease manifests itself in various forms.

Atypical form includes light, erased forms of edematous-anemic and cirrhotic orientation, manifested:

• development of a special form of cirrhosis;
  
• by echographic signs of liver enlargement;
  
• obstructed blood flow in the portal system;
  
• with general itching;
  
• with Gospel Disease;
  
• accumulation of fluid in the peritoneum.

In the pulmonary form of cystic fibrosis, pathologies are divided into four stages.

In the 1st stage, pathological changes in the bronchi and pulmonary lobes manifest themselves:

• cough;
  
• with dyspnea and cyanosis with moderate exercise.

The 2nd stage, which has been developing for many years, is expressed by pathological changes in the bronchi:

• with mucus secretion on coughing;
  
• with increased dyspnea( dyspnea);
  
• deformation of the fingers.

The third stage is characterized by complicated processes:

• pneumofibrosis;
  
• bronchiectasis;
  
• cardiopulmonary insufficiency;
  
• phlegm with purulent impurities;
  
• occurs chest deformation in any of the three types - funnel-shaped, keel-shaped or barrel-shaped;
  
• marked with dry or wet rales;
  
• processes of deformation of phalanges of fingers and in nails;
  
• fragile hair, without shine with a gray tinge;
  
• with dystrophic changes of the skin with pronounced cyanide, dryness and flaking;

In the 4th stage, cardiopulmonary insufficiency passes into the terminal phase, leading to a lethal outcome. The intestinal form is caused by an enzymatic deficiency in the intestine and pancreas.

Symptoms are manifested:

• frequent, abundant, fatty feces;
  
• or poor and dense feces;
  
• manifestation of constipation;
  
• by prolapse of rectum( consequence of increased viscosity of secretion);
  
• the patient suffers from flatulence( swelling of the intestine);
  
• decreases appetite and muscle tone;
  
• appears edematous syndrome.

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Complications of

Cystic fibrosis is characterized by multiple manifestations of complications, not to mention the "banal" broncho-pulmonary pathology, manifested by more serious pathologies:

• bronchoectatic disease;
  
• with eczema of pulmonary lobes and hypertension;
  
• manifestations of bacterial destruction in the lungs;
  
• by sinusitis, exacerbating the symptoms of asthma;
  
• syndrome of energy-dynamic heart failure;
  
• syndrome of celiac disease, diabetes and many other manifestations;

Diagnosis of cystic fibrosis

Cystic fibrosis is a rather serious disease, especially when the children are sick, and an error in the diagnosis, sometimes, is worth living to the patient. For a clearer diagnosis, the differentiation of similar diseases is performed.

In pulmonary form differentiation is performed with respect to:

• of the substructive bronchitis;
  
• pertussis and chronic pneumonia of a different genesis;
  
• asthmatic bronchitis.

Intestinal form differentiates, excluding the similarity of symptoms in diseases that disrupt intestinal absorption:

• celiac disease and enteropathy;
  
• intestinal dysbiosis;
  
• is a disaccharide deficiency.

If there is a genetic factor, prenatal diagnosis is appropriate in pregnant women from the second trimester. A method of genetic search is used that determines the mutation of the gene in DNA cells or in blood plasma by means of PCR analysis.


In addition to general analysis, the target diagnostics are used:

1. 1) Coprogram - GI tracts are examined for the detection of enzymatic disorders.
   
2. 2) Microbiological analysis of sputum.
   
3. 3) Bronchography - the detection of bronchial defects.
   
4. 4) Bronchoscopy - definition of sputum composition;
   
5. 5) X-ray - detection of infiltrative and sclerotic foci.
   
6. 6) Spirometric method - examination of lung function.
   
7. 7) Analysis of sweat determination of the number of sodium ions and the concentration of chlorine. It is this analysis that confirms cystic fibrosis if these elements are above normal.

Treatment of cystic fibrosis

The main direction in the treatment process is aimed at the prevention of complications. To facilitate the release of the secret accumulated in the bronchi, mucolytic medicament preparations in the form of spinhaler or aerosols are prescribed. This dosage allows rapid delivery of the drug to the affected area and promotes rapid liquefaction of mucus. A good effect, when deducing a secret, breathing exercises, vibro-massage procedures and a special massage vest are given.

In addition, for treatment of cystic fibrosis it is necessary to take care of the normalization of the gastrointestinal tract activity - this is done with the help of drugs that facilitate the withdrawal of bile and the contents of the lumen of the duodenum, digestive enzymes - zanzimami. When accessing diseases of an infectious nature, antibiotics and etiotropic therapy are prescribed.

Complicated forms of the disease are treated with the use of hormone therapy with the appointment of glucocorticosteroid drugs. Surgical intervention is a necessity when cystic fibrosis is manifested by intestinal obstruction.

A balanced, protein-rich diet plays a large role in the treatment of cystic fibrosis. Consumption of fatty foods should be limited. The diet should be rich in vitamins and salts in order to balance the water-salt balance. At this time, the method of prospective treatment of cystic fibrosis is transplantation of affected organs.


In patients with strong immunity and good physical data, the prognosis is favorable. With early diagnosis, targeted treatment and prevention of relapse, the prognosis may well be favorable.

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