Cystic Fibrosis :: essays research papers

Cystic FibrosisCystic Fibrosis, is a genetic disorder of the exocrine glands, touch children and young people median survival is 25 years in females and 30 years in males. It is caused by a genetic geometrical irregularity in the CF transmembrane conductance regulator (CFTR) gene that results in the disruption of chloride move out across cell membranes. As a consequence, chloride ions build up in the cells of the lungs and other organs. Water stays inside the cells to dilute the chloride rather than world drawn out of the cells by normal chloride movement and the normal secretions of the organs thicken. Mucus in the exocrine glands becomes thick and sticky and eventually blocks the ducts of these glands (especially in the pancreas, lungs, and liver), forming cysts. The disease also causes the sweat glands to secrete excessive salt, causing arouse prostration in hot weather. Symptoms, which vary according to the severity of the mark pip and the glands involved, involve a dist ended abdomen diarrhea bulky, foul-smelling stools and malnutrition. Medical problems include nasal polyps and sinus disease, repeated respiratory infections, infertility, liver disease, and diabetes. Diagnosis is substantiate by a sweat test or measurement of transmembrane potential. treatment consists of dietary adjustment (low fat&8212high calorie) and the administration of vitamins, pancreatin, and antibiotics to ward off secondary infections. Special measures are necessary to decrease the viscosity of pneumonic secretions aerosol application of recombinant human deoxyribonucleic acid, an enzyme that digests the sticky extra cellular DNA that helps form these viscous secretions, was approved in 1993. In some cases lung transplantation is helpful. The identification of the abnormal gene (1989) paved the way for gene therapy aimed at altering the genetic structure by transferring to the patient cells with normal CFTR genes.