Cystic+Fibrosis+MA

=Cystic Fibrosis:=
 * comes from a mutation of a gene in chromosome 7
 * The gene contains instructions for building a protein called Cystic Fibrosis transmembrane conductane regulator.
 * When there is no mutation CFTC sits on the cell membrane and allows chloride in and out of the cell.
 * With the mutation CFTC may not let any chloride into the cell at all. In most Cystic Fibrosis cases there is no CFTC made at all.
 * The mutation causes three letters of the code to disappear which results in no instructions to make amino acid phenylalanine.
 * When the body sees there is a faulty protein on the membrane the body kills it.
 * The result of this protein being killed is salty sweat. This causes the body to reabsorb sodium. The loss of salt leads to a weird balance of ions and can mess up the heart's rhythm.
 * People with Cystic Fibrosis also have digestive problems because without CFTC digestive enzymes don't reach the intestine.
 * Without CFTC water and chloride fill the cells causing a mucus and preventing them from transporting enzymes.
 * The clogging of water and chlroide mostly affects the lungs. Mucus fills up in the lungs and leaves the person very prone to bacterial infections of the lungs. The mucus blocks the lung cells from transporting oxygen and the immune system tries to kill its own lung cells.
 * The mutated gene is inherited from the mother and the father. They both must have the mutated gene. The parents may not have it if they have one normal gene and one infected but then the baby gets two infected genes for chromosome 7. This is a recessive disorder.
 * If both parents are carriers there is 1/4 chance their child has Cystic Fibrosis.
 * If one parents has it and the other is a carrier there is a 50% chance the child will have it.
 * If one parent has it and the other doesn't and is not a carrier there is no way your children can have it.
 * Treatment:
 * Antibiotics to remove infection and trying to remove the mucus from the lungs. Medications to help digest food.
 * Lung transplant is an option. Iliminates cystic fibrosis from the lungs but you still have it in the rest of the body. Problems: donor variability is small. Waiting time is too long. Must wait 3-4 years. Can be complications from receiving a lung.
 * Older patients with CF have problems with diabetes. Also bone weakness.
 * Chest percussions and fitting vests everyday
 * People with CF have energy loss
 * makes children feel different