Cystic Fibrosis Cystic fibrosis is a hereditary disease, which is caused by the accumulation of mucus in epithelial cells of the digestive, respiratory, and reproductive tracts. Cystic fibrosis transmembrane conductance regulator (CFTR) facilitates chloride channel and controls several other metabolic pathways. Mutations in the particular gene cause cystic fibrosis. CFTR gene functions in regulating sweat, digestive juices, and mucus. A human body consists of two functioning CFTR gene, and when neither gene functions efficiently, cystic fibrosis is developed, and hence has autosomal recessive inheritance.
Cari’s airway would be affected by excess mucus and fluid buildup because the build up would cause resistance in her lungs due to the small diameter of space that is available. This buildup of fluid would cause some of the alveoli to be under water where they are not able to function properly. There will also be more friction due to the buildup of fluid. E.) How would Cari’s lung compliance (the effort required to expand the lungs) be altered as her alveoli fill with fluid due to pneumonia? Cari’s lung compliance would increase from trying to push gases into and out of the alveoli.
The cough reflex is used to clear sputum and irritants that are in the nasal passages and pharynx. There are cilia in her trachea that is moving mucus up from the lungs. When the mucus becomes abundant it triggers the cough reflex. C – Which structure found in the terminal bronchioles and alveoli normally would protect Cari’s lungs from infectious pathogens and particulate matter? There are macrophages found in the terminal bronchioles and alveoli that normally would protect Cari’s lungs from infectious pathogens and particulate matter.
Task 1 Kleinfelters syndrome An error in cell division called nondisjunction which results in a reproductive cell with an abnormal number of chromosomes .Resulting in one of more x chromosomes. Resulting in a total of 47 chromosomes per cell. Downs syndrome An error during anaphase causes problems like trisomy 21 when there is 3 chromosomes for the chromosomes pair 21. Name two conditions /disease caused by gene mutation. Haemophilia Albinism Task 2 (B) Sickle cell anaemia Anaemia Anaemia is a lack of blood cells which is a common symptom of sickle cell anaemia.
Newborns that are found to have the disease through are given antibiotics as infants to ward off infections. Pain is treated by simple painkillers, from over the counter for mild cases of pain, to stronger clinical pain medicine for severe cases. Blood transfusions are also given to treat anemia and to reduce the rick of severe complications like stroke. Oxygen therapy is also offered to help with anemia. There is also a drug called hydroxyurea.
The name “PKD” really is a misnomer, however, in that many individuals also have significant liver disease (sometimes necessitating liver transplant) and cardiovascular disease (resulting in hypertension, strokes, aneurysms of the blood vessels of the brain and aorta, and cardiac vascular disorders). For the most part, polycystic kidney disease is caused by mutations in the PKD1, PKD, and PKHD1 genes. Mutations in these genes cause both autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease. Acquired cystic kidney disease is nonhereditary, it most often occurs in people with long-term kidney damage. A person with polycystic kidney disease will experience symptoms as a result of the damage caused by cysts (fluid-filled sacs) that develop in the kidneys.
Polycystic kidney disease What is polycystic kidney disease? Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.
They are also medication that controls attacks. That can reduce inflammation so breathing is easier and stops swelling seeing a doctor is a good thing and they will tell you steps and how to prevent asthma. There are four steps; mild stage 1, moderate stage 2, severe stage3, and respatory failure stage4.They also have inhaling drugs that are designed to open up airways. If the person has and infection they are given
Some people might find that they will cry or laugh for no reason. They can also feel really tired. -bladder problems: the bladder is controlled by the nervous system, so MS might cause bladder issues, such as no control of the bladder resulting in wetting themselves, or needing the toilet more than normal. Billy had trouble with his balance and his bladder a lot, he also suffered from a few muscle spasms which caused him to go to the Doctors. The causes of multiple sclerosis: MS happens because of the damage to the nerve fibres of the central nervous system.
Cystic Fibrosis Cystic fibrosis (CF) is a non-curable inherited defect of a gene called the cystic fibrosis transmembrane conductance regulator gene (CTFR). The (CTFR) gene makes a protein that regulates the movement of water and salt throughout the cells in our body. This defective gene causes the production of thick, sticky mucus. It builds up and first clogs the small airways, but eventually it can affect all airways. The airways are responsible for carrying harmful bacteria out of the body.