What Types of New Therapies are Available for Cystic Fibrosis?

Discussion Cystic fibrosis (CF) was identified in 1938 by Dr. Dorothy Andersen who described 49 patients with pancreatic insufficiency. Since that time significant achievements in the knowledge about the disease and treatments for patients have changed the mortality from a few months to patients living into middle adulthood or even later. Quality of life for patients and their families and friends has also markedly improved. CF is the classic Mendelian autosomal recessive genetic disorder which is a worldwide disorder but affects people of north European ancestry more often where the main mutation is more common. There are more than 2000 variants, but the main mutation is known as Phe508del or F508del. This codes for the cystic fibrosis transmembrane conductance regulator gene (CFTR). Simplistically the CFTR codes for a protein that leaves the endoplasmic reticululum and attaches to the chloride and anion channel at the apical cell membrane which facilitates anion transport out of the cell. This regulates chloride, bicarbonate (needed for respiratory cell protection and pancreatic enzyme activation) and maintains epithelial surface hydration. In countries with a high prevalence, newborn screening provides most of the diagnoses. Location specific protocols can include testing for immunoreactive trypsinogen, pancreatitis-associated protein testing and DNA mutation analysis. Newborn screening is a screening test and a sweat chloride test is considered the gold standard for diagn...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news

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