11:709:255 Lecture Notes - Lecture 30: Cystic Fibrosis, Dominance (Genetics), Staphylococcus

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Cystic fibrosis: inherited autosomal recessive disorder defect in. Most common lethal genetic disorder prevalent in caucasians - ~2-5% of white population is heterozygous, 1:2500 live births. Defective transport of cl across cell membrane : excessive secretion of thick mucous by epithelial cells which causes obstruction of ducts and glands of organ systems, excessive loss of na and cl in sweat. Affects respiratory tract, sweat and salivary glands, intestines, pancreas, liver and reproductive tract. Lungs: frequent respiratory infections (pseudomonas aeruginosa and staphylococcus aureas) scarring of lungs. Pancreas: impaired nutrient digestion and absorption (i. e. , fat soluble vitamins) malnutrition, poor weight, poor growth and development. Risk factors and signs and symptoms: chronic lung disease, failure to thrive, frequent bowel obstructions (distal intestinal obstruction syndrome dios, family hx of cf. Sweat-chloride tests (gold standard) elevated levels of na and cl (>60 meq/l) in collected sweat. Medication to loosen mucus and dilate airways. Airway clearance devices to loosen mucus.

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