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Cystic Fibrosis Gene Description

Cystic fibrosis is a monogenic disease with recessive inheritance, which is due to a mutation of the transmembrane regulatory protein gene. It is characterized by a violation of the formation of the transmembrane protein, leading to a disruption of the functions of various exocrine glands due to the formation of a thick secretion.

To a large extent, respiratory organs, liver and intestine, pancreas, are clinically affected. The frequency varies up to 1 case per 5000 people. Cystic fibrosis is one of the most serious and frequently occurring hereditary diseases.

The first signs of the disease may be dystrophy of the child, meconium intestinal obstruction, recurrent bronchial obstruction. There are three main forms of cystic fibrosis:

Intestinal

Pulmonary

Mixed

A gene is identified that is responsible for the onset of the disease. It is located on the long arm of the seventh chromosome. Due to its mutation, the synthesis of the transmembrane protein, which acts as a chlorine channel in different cells, is disrupted. As a result of gene mutation, the structure and functions of the protein are disrupted, which is located in the apical part of the membranes of epithelial cells that line the excretory ducts of the intestine, bronchopulmonary system, pancreas, urogenital tract, and regulates electrolyte transport between the intercellular fluid and these cells. As a result, the electrical potential in the lumen of the excretory ducts changes, contributing to an increased yield inside the cell from the lumen of sodium ions, which serve as a kind of pump, which leads to an accelerated "absorption" of the intercellular water component. Because of this, the secret of the glands of external secretion thickens; its evacuation is difficult with the development of secondary changes in these organs, especially from the bronchopulmonary system.

Often already from the first weeks in the majority of patients observed paroxysmal cough, sputum difficult to separate, attacks of suffocation, vomiting. Cough is especially worse at night. Often there is sinusitis, which has a stubborn flow due to violations of secretion in the salivary glands; there is the possibility of the emergence of nonspecific mumps. The first symptoms of this form of cystic fibrosis also include insufficient weight gain with a satisfactory appetite, lethargy, pallor. Obstruction develops - inflammation - excessive sputum production.

Cystic fibrosis is a monogenic disease with recessive inheritance, which is due to a mutation of the transmembrane regulatory protein gene. It is characterized by a violation of the formation of the transmembrane protein, leading to a disruption of the functions of various exocrine glands due to the formation of a thick secretion.

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100004654
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CREATED ON
27 April 2017
COMPLETED ON
28 April 2017
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$32
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27 April 2017
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27 April 2017
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28 April 2017
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28 April 2017
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