Cystic Fibrosis Facts

Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) gene, located on the long arm of chromosome seventh encoding a chloride channel.

The CFTR gene is essential for the regulation of salt and water movement across the cell membrane.

The genetic defect causes an increase in sodium-chloride in sweat with an increase in electrical potential difference across the respiratory epithelium can be detected in the nose.

Insertions and deletions:

In the process of transcription and translation, one or more nucleotides may be inserted or removed in a strand of DNA.

In a gene can result in abnormal splicing or modification of the reading frame. The insertion or deletion of a single nucleotide will alter the coding sequence of the following sequence changed. As the coding sequence is altered, the abnormal protein synthesis takes place and it can also create a premature stop codon. Similarly insertions or deletions may also occur.

In CF 3 common base pair deletion occurs at the 508th codon of chromosome 7.

This causes a loss of a "phenylalanine (F) residues (delta F508), resulting in abnormal folding of the protein.

When CFTR delta F508 mutation in the endoplasmic reticulum reaches the abnormal protein is recognized by the cell that does not allow the delta F508 to reach the cell membrane.

individuals homozygous for the delta F508 mutation tend to have the most severe symptoms of cystic fibrosis due to critical loss of chloride ion transport that upsets the balance of sodium and chloride necessary for maintaining normal, thin layer mucus that is easily removed by cilia, along the lungs and other organs.

Because of the increased sodium chloride content and electrical potential difference, secretions hostel in lungs and other organs becomes very viscous. This results in ciliary dysfunction and chronic bronchial infection.

Clinical features: The disease of the lung airway obstruction due to mucous build and resulting inflammation. Inflammation and infection can cause lung injury and structural changes that lead to a variety of symptoms. In the early stages incessant coughing, copious phlegm production and a decreased ability to exercise are common. Many of these symptoms occur when bacteria that normally inhabit the thick mucus grow out of control and cause pneumonia.

Initially, the bacteria associated with cystic fibrosis are those expected in the bronchiactasis other causes, but infection with Staphylococcus Staphylococcous tends to be early in cystic fibrosis and Pseudomonas infection, the majority at an early age.

repeated lung infections, inflammation and scarring almost inevitably lead to respiratory failure and death.

Treatment of cystic fibrosis:

The goals of treatment of cystic fibrosis are:

• Prevention and control of lung infection
• Loosen and remove mucus thick and sticky in the lungs
• Preventing or treating blockages in the intestines

Provide adequate nutrition:

• Prevent dehydration (a condition in which the body does not fluid)

Treatment for lung problems:

• The main treatment is chest physiotherapy (CPT), exercise and medication.

Exercises:

• Aerobic exercises help to loosen mucus in the airways so that it can be coughed.

Drugs:

• weeks multiresistant bacteria and require treatment with intravenous antibiotics such as vancomycin, tobramycin, meropenem, ciprofloxacin and piperacillin.
• Oral antibiotics are used to treat km.