CF:1.Cystic fibrosis, one of the most frequent and seriousgeneticdiseases,CFaffects theexocrineglands and is characterized by the production ofabnormalsecretions, leading tomucousbuild-up.
This accumulation ofmucuscan impair thepancreasand, secondarily, theintestine. Mucous build-upinlungstends progressively to impair respiration. Without treatment, CF results indeathfor 95% of affected children before age 5. However, with diligent medical care patients with CF are surviving even beyond middle age.
Earlydiagnosisof CF is of great importance. Early and continuing treatment of CF isessentialfor long-term survival. However, as more people with CF survivechildhood, new problems are emerging. For example, 68% of 75 adult women with CF reported leakage ofurinewithin the past year. Coughing, sneezing, laughing andairwayclearance provoked the leakage, which was worse when theirchestdiseasewas most severe.
CF is inherited in anautosomal recessivemanner and affects both boys and girls. One in 400 white couples is at risk for having children with CF and their risk with each pregnancy is 1 in 4, so (multiplying 1 in 400 times 1 in 4) the overall risk that their child will have CF is 1 in 1600. Note that once a couple has had a CF child, the risk that each of their subsequent children will have CF drops to 1 in 4 (25%).
The treatment of CF includesphysical therapyto loosen the mucus in the lungs,pancreaticenzymes, and medications to fight dangerous infections of the lungs.
CF is caused by mutations in agene被称为CFTR(for the cystic fibrosis conductance regulator), which is located onchromosome7.
2.Citrovorum factor.
