Cystic fibrosis and law of probability

Cystic fibrosis (CF), also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys and intestine. Long term issues include difficulty breathing and coughing up sputum as a resulting of frequent lung infections. Other symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in males among others. Different people may have different degrees of symptoms. CF is an autosomal recessive disorder. It is caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).Those with a single working copy are carriers and otherwise mostly normal. CFTR is involved in production of sweat, digestive fluids, and not functional usually thin secretions become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at birth take place in some areas of the world. There is no cure for cystic fibrosis. Lung infections are treated with antibiotics which may be given intravenously, inhaled, or by mouth. Sometimes the antibiotic azithromycin is used long term. Inhaled hypertonic saline and salbutamol may also be useful. Lung transplantation may be an option if lung function continues to worsen. Pancreatic enzyme replacement and fat soluble vitamin supplementation are important, especially in the young. While not well supported by evidence, many people use airway clearance techniques such as chest physiotherapy. The average life expectancy is between 37 and 50 years in the developed world. Lung problems are responsible for death in 80% of people. CF is most common among people of Northern European ancestry and affects about one out of every three thousand newborns. About one in twenty five are carriers. It is least common in Africans and Asians. It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The name cystic fibrosis refers to the characteristic fibrosis and cysts that form within the pancreas. #CysticFibrosisDiseaseOrMedicalCondition #HealthIndustry #mucoviscidosis #geneticDisorder #autosomal