Cystic fibrosis Definition: ## An inherited condition, cystic fibrosis affects the cells that produce mucus, sweat and

digestive juices. These secreted fluids are normally thin and slippery. But in cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

## Cystic fibrosis (CF) is a disease state resulting from a dysfunction in the cystic fibrosis
transmembrane receptor (CFTR).

## Multiple organ systems are affected in CF individuals; especially, the lungs, the digestive system, and the reproductive organs. ## The cause of CF is due to a mutation of the CFTR gene , The most common mutation
identified in CF patients is F508.

Pathophysiology

Symptoms
## The thick and sticky mucus associated with cystic fibrosis clogs the tubes that
carry air in and out of your lungs. This can cause:

A persistent cough that produces thick spit (sputum) and mucus Wheezing Breathlessness A decreased ability to exercise Repeated lung infections Inflamed nasal passages or a stuffy nose

Respiratory system complications

Bronchiectasis. Cystic fibrosis is one of the leading causes of bronchiectasis, a condition which damages the airways, making it harder to move air in and out of the lungs. Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis may have frequent bouts of sinusitis, bronchitis or pneumonia. Nasal polyps. Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps). Nasal polyps can obstruct your breathing during sleep. Cough up blood. Over time, cystic fibrosis can cause thinning of the airway walls. As a result, teenagers and adults with cystic fibrosis may cough up blood (hemoptysis). Pneumothorax. This condition, in which air collects in the space that separates the lungs from the chest wall, is also more common in older people with cystic fibrosis. Pneumothorax can cause chest pain and breathlessness. Collapsed lung. Repeated lung infections damage the lungs, making it more likely for the lung to collapse. Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function typically worsens gradually, and it eventually can become life-threatening.

Diagnosis: ## In the screening test, a blood sample is checked for higher than normal levels of
a chemical (immunoreactive trypsinogen, or IRT) released by the pancreas.

## A newborn's IRT may be high because of premature birth or a stressful delivery. ## Sweat test: A sweat-producing chemical is applied to a small area of skin.
The collected sweat is then tested to see if it's saltier than normal. ## Genetic testing: DNA samples from blood or saliva can be checked for specific defects on the gene responsible for cystic fibrosis.

Treatment: Desired outcomes

Prevent and treat sinusitis. Increase FEV1 and promote optimal pulmonary function tests and prevent pulmonary exacerbations. Promote effective airway clearance by providing counseling on use of appropriate medications and chest physiotherapy. Prevent and treat colonization of the lungs with pathogens. Prevent and treat acute exacerbations

## Airway clearance medication

1. Bronchodilator: Albuterol is commonly used for this indication. It helps open up the airways and prevents bronchospasm. 2. Hypertonic saline :It hydrates the airway mucus secretions and facilitates mucociliary function. 3. Dornase alfa (Pulmozyme): Enzyme which results in decreased viscosity of mucus 4. Aerosolized antibiotics [tobramycin (TOBI)]: If this therapy is indicated based on severity of lung disease and sputum cultures, Anti-inflammatory Therapies ## ibuprofen (20 to 30 mg per kilogram of body weight twice daily). ## azithromycin (250 to 500 mg) given 3 times weekly.

Pharmacokinetics:
CF patients are unique in respect to a larger volume of distribution and a faster rate of clearance. With a larger volume of distribution, patients may require larger antibiotic doses. Dosing intervals become shorter because drugs are eliminated faster.

Diabetes ## As CF patients live longer, glucose intolerance and CF-related diabetes (CFRD) are common complications. ## insulin is the recommended medical treatment Nutrition: ## supplement include bile acid salt , pancreatic enzymes , fat soluble vitamins especially vit D.