Short critical essay on cystic fibrosis

Abstract. Cystic fibrosis (CF), a monogenic disease, is the most common autosomal recessive, life-shortening disease affecting people of Northern European descent. According to the American Cystic Fibrosis Foundation patient registry, there are currently more than 30,000 CF patients in the United States and more than 70,000 CF patients worldwide. This disease is caused by dysfunctional transport of chloride and/or other ions (such as sodium and bicarbonate) leading to the generation of thick, viscous secretions (e.g., mucus) in the lungs, pancreas, liver, intestine and reproductive tract and increased salt content in sweat gland secretions. Ultimately, progressive lung disease is the main cause of CF complications and patient mortality. This disease manifests in many organs, but mostly in the upper and lower respiratory tract, pancreas, intestines and reproductive system. For most patients, lung disease is the most important problem in terms of symptoms and the treatment required and the fact that it is the most likely cause of death the
optimal diagnostic test for cystic fibrosis is the measurement of electrolyte levels in sweat. Patients with the disease have elevated sodium and chloride concentrations (>60 mmol/l, diagnostic; 40-60 mmol/l, intermediate (but more likely to be diagnostic in infants); <40 mmol/l, normal). However, undoubted cases of cystic fibrosis have been described with normal sweat electrolytes. Newer techniques have reduced the amount of sweat needed, although cystic fibrosis is currently incurable and greatly reduces life expectancy, the average age of survival of CF has increased significantly over the past 50 years and now exceeds 40 years. Therefore, CF is no longer considered solely as a childhood disease, but is now recognized as a disease of children and adults. Currently, more than half of CF patients are adults up to 60 years of age, indicating that active treatment can improve prognosis, increase quality of life and prolong life expectancy.