Is and inherited disease that first appears in childhood and is characterized by chronic lung disease, a dificiency of pancreatic enzymes and an abnormally high concentration of salt In the sweat. Although it is a generalized body disease, it was misnamed cystic fibrosis of the pancreas because it changes in th pancreas attracted the attention of the early investigators Tecnically. the disease is known as mucoviscidosis. In cystic fibrosis, the products of the exocrine glands have a variety abnormalties. In particular.
mucus. which ordinarilly helps lubricate and protect many body surfaces, is so thick that it often obstructs the bronchi and other organ passages. The Widespread obstruction give rise to most of the symptoms and anatomical findings in the disease. The sweat glands are affected in a different way, They produce sweat that has an abnormally high salt content.
Cystic fibrosis Is due to an Inborn error of metabolism that Is inherited as a recessive trait. In families where both parents ae carriers, approximately 25% of all the offspring Will have the diswase, although the incidence may vary from one family to the next.
The disease is relatively common to Caucasians. usually among Negroes. and very rare in Mongolians. In the United States, about 1 in every 2000 children is born with the disease, and 5% of the population are carriers. In the days before antibiotics, patients succumbed to bronchopheumonia or malnutrition, and the underlying cause was not recognized. Cystic fibrosis is now known to be one of the most chronic diseases of children in the United States.
A diagnosis of cystic fibrosis should be suspected whenever a child has chronic or recurrent bronchitis or when malnutrition is present despite an adequate diet. The diagnosis may be confirmed through an analysis of the patients sweat.
There is no cure for cystic fibrosis, and the treatment is aimed at relieving the patients symptoms. Dietary restrictions counteract the lack of pancreatic enzymes‘ and in hot weather. the patient is given additional salt to replace that which is lost through profuse sweating the treatment of living disorders includes the administration of antibiotics to combat infection, breathing exercises and other physical therapy measures, and the inhalation of certain solutions to help remove mucus from the bronchi. With early diagnosis and appropriate treatment, the life span of patients with cystic fibrosis is greatly increased, Although many patients die in their childhood, others reach early adulthood and are able to lead fairly normal lives.
Newer therapies involve gene therapy, which aim to correct the underlying genetic defect in CF patients. These therapies are still being developed and studied. Regular monitoring of lung function, nutritional status, and overall health is important in managing CF. CF patients may also benefit from working with a multidisciplinary team, including pulmonologists, nutritionists, respiratory therapists, and other healthcare providers. In conclusion, diagnosis of cystic fibrosis involves a combination of genetic testing, sweat chloride testing, and clinical evaluation. Treatment involves a multidisciplinary approach aimed at managing symptoms and preventing complications, including medications, airway clearance techniques, nutritional therapy, lung transplant, and gene therapy. Regular monitoring and working with a healthcare team can help improve outcomes for CF patients.