Cystic fibrosis (CF) is the most common fatal
autosomal recessive disease among the Caucasian population. CF is considered as a life-threatening condition that causes severe damage to the lungs and digestive system.
An individual who is predisposed to having this disorder must generally inherit a defective copy of the CF gene (one from each parent) to acquire Cystic fibrosis. This multisystem genetic disease is normally diagnosed during infancy or in early childhood but can only be given a working diagnosis and prognosis later in life. Respiratory symptoms are frequently the major manifestation of CF when it is diagnosed later in life.
Pathophysiology of Cystic fibrosis
Cystic fibrosis is caused by mutations in the CF transmembrane conductance regulator protein, which is actually a chloride based channel which are found in all exocrine tissues. CF is considered to be a very vicious autosomal disorder which causes viscous secretions in the lungs, pancreas, liver, intestine and reproductive tract as well as increased salt content in the sweat gland secretions.
As an inherited disease condition, cystic fibrosis generally affects the cells that produce mucus secretions, digestive juices and sweat. These substances are secreted via cells that provide for a thin and slippery consistency indispensable to the normal functioning of cells, tissues and organ systems. But n CF, the defective gene results in the secretions to become far thicker and viscous. Instead of acting as a lubricant between tissues, the sticky secretions tend to plug up the passageways and ducts especially in the lungs and pancreas.
Clinical Manifestations of Cystic fibrosis
The pulmonary manifestations of Cystic fibrosis include a productive cough, wheezing, hyperinflation of the lung fields, upon chest x-ray and pulmonary function test results showing consistent with obstructive diseases of the airways. Chronic respiratory inflammation and infection are primarily due to the impaired mucus clearance which becomes a thriving environment for bacterial growth. Colonization of the airways with pathogenic bacteria usually occurs early in life. Staphylococus aureus and H. influenzae are common disease causing microorganism during early childhood . As the disease progresses, Pseudomonas aurginosa is ultimately isolated from the sputum of most individuals suffering from CF.
Medical Management of Cystic fibrosis
Pulmonary problems remain the leading cause of morbidity and mortality in Cystic fibrosis which account for death in more than 95% of patients according to a recent study. A variety of management techniques are necessary in the effective treatment and management of CF. Because, chronic bacterial infection of the airway occurs predominantly in CF, control of infection is paramount to the effective control and treatment of this autosomal disease process. Antibiotic medications are routinely prescribed for acute pulmonary exacerbations of the disease. Depending on the severity of the exacerbation, oral or intravenous antibiotic therapy may be used to control infection.
Antibiotic agents are normally selected based on the results of sputum culture and sensitivity. Individuals with Cystic fibrosis who are infected with bacteria that are already resistant to multiple antibiotics, further require multiple courses of antibiotic agents over long periods due to the ineffectiveness of the drug’s ability to eliminate the microorganism following recurrence and long term drug resistance. Finally, nursing management is focused towards maintaining an effective and patent airway clearance and various pulmonary techniques are employed to enhance airway clearance of patients suffering from Cystic fibrosis.