). Haematology There is increasing evidence that CFTR is expressed in polymorphonuclear leukocytes and may be required for proper phagosome acidification and bacterial killing (Conese et al
Cystic Fibrosis Clinical Medicine and Cellular Pathology Cellular Biochemistry The CFTR (cystic fibrosis transmembrane conductance regulator) gene product is a 168 kD cAMP-regulated chloride channel expressed on epithelial cells in the airways, intestine, reproductive tissues, pancreas, and sweat and salivary glands (Li and Naren, 2005)
The complexity of interactions with other regulatory proteins is still incompletely understood, but what is known suggests that CFTR activity can be altered by a number of different regulatory pathways in the cell. Blood Chemistry Pancreatic insufficiency is detectable in 75% of newborns with cystic fibrosis and is caused by a buildup in bicarbonate and an inability to produce ductal fluid from the ductal epithelial cells (Rodrigues et al
Diagnosis Diagnosis for cystic fibrosis is usually made in the first few days of life either through genetic testing or blood testing. Majority of the infants born in developed countries are screened through genetic tests or blood tests (Farrell et
Lastly, the paper will discuss the different medical treatments that are now present for the disease. The worldwide incidence of the disease varies from 1 per 377 live births in some parts of England to one per 90,000 live births in Asian-American and African-American populations (FitzSimmons) Before we go into the intricate details of the disease, it should be known why alterations in the composition of mucus make such an impact to the human body
If any of these tests come out positive, then the physician orders a sweat test. The sweat test which measures the amount of salt in a person's sweat is gold standard for the diagnosis of cystic fibrosis (Gibson) In the sweat test, the doctor triggers sweating by stimulating a patch of skin with a sweat producing chemical
Going from the top of head to the feet, we see that the sinuses get infected due to buildup of mucus. The lungs also have a buildup of thick and sticky mucus which leads to repeated infections (Rosaler) Normally, the cilia lining the airway can sweep up the mucus to be swallowed by the esophagus
With the newly discovered genetic mapping of the disease the medical community began to move quickly in the direction of new therapies to treat the disease with. (Cooke, 1993)
The options include physical or pulmonary therapy (draining of the lungs), exercises to help loosen mucus and stimulate coughing, medications such as bronchodilators to improve the passage of air into the lungs, mucus-thinning medications (called mucolytics), and antibiotics to kill infection-causing bacteria. To help make the child more comfortable, parents can learn how to perform procedures such as physiotherapy at home (Ricks, 1997)
383). Not surprisingly, a number of researchers cite a low adherence rate for compliance with these aggressive therapies by many CF patients (Drotar)
28). The addition of these bicarbonate ions helps cystic fibrosis patients metabolize ingested food more normally, as well as serving to neutralize large accumulations of stomach acid (Reid)
Review and Discussion Background and Overview. Cystic fibrosis was first identified as a specific disorder in 1938; however, the precise cause for the disorder remained unknown until the cystic fibrosis (CF) gene was identified in 1989 (Schubert & Murphy, 2005)
g., a chromosome that is not a sex chromosome) recessive disease that occurs in about one in 3,400 live births among Caucasians; however, its incidence is less among people of other backgrounds (about one in 30 whites and one in 60 blacks are carriers) (Wilfond, 1995)
What Science Looks for in the 1930s, Dr. Dorothy Andersen, a pathologist at Columbia University, noted the pathological similarities in the cases of certain children who were just days old, to as much as several years old (Clark, 1997, p
" There is also a need to bring together technology, biology, and sociology in ways that prove the most beneficial and useful to the diagnosis and ongoing course of patient care. The many specialized disciplines in collecting, interpreting, analyzing information and data, in combination with the study of sociological factors that might have an impact on the CF patient's condition, like stress and nutrition, need to be a part of the research and treatment protocols (Digirolamo and Quittner, 1997, p
Genetic research today, more than anything else, is probably the most aggressive and advanced it has ever been before. It raises ethical and social issues in many circles, and those issues deserve debate and there is a need to ensure ethical practices when words like "cloning" and human genetic engineering are being used (Howie, 2002, p
" The arguments in favor of CT or MRI over CRX or other radiological approaches demonstrate a need for physicians to utilize the technology that best assists and supports the ongoing course of patient treatment and care. Chapter Five Discussion and Conclusion Advances in technology with respect to diagnosis, ongoing treatments and care have increased the life expectancy of people afflicted with CF from an unpredictable life expectancy, to an average life expectancy of early thirties (Krasnegor, Epstein, Johnson, and Yaffe, 1993, p
It is an inherited disease passed on when both parents, usually of Caucasian European ancestry (it is seldom found in Asians or people of Black African descent (Berrocal, et al., 2004, p. 1305)) (Lewis, 1993, p
Some of the respiratory manifestations of cystic fibrosis are presence of thickened secretions that come about when there is too much chloride and too much sodium transport from the mucous. Sticky mucus obstructs airflow in bronchioles and small bronchi (Gould, 2002)
Patients with cystic fibrosis are subjected to medical imaging examination as it helps in monitoring the disease pathologic changes. Cystic fibrosis patients are more likely to develop thoracic, digestive tract, kidney and thyroid cancer because of they are exposed to ionizing radiation (Jones & Helm, 2009)