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CYSTIC FIBROSIS
ONE OUT OF EVERY 2,500 BIRTHS IN THE UNITED STATES WILL BE DIAGNOSED
WITH CYSTIC FIBROSIS. THIS FACT MAKES CYSTIC FIBROSIS ONE OF THE MOST COMMON
GENETIC DISEASES IN THE NATION. ABOUT 30,000 AMERICANS HAVE THE DISEASE, BUT
EVEN THOUGH CYSTIC FIBROSIS IS THE NATIONS MOST COMMON GENETIC DISEASE THE
MAJORITY OF AMERICANS KNOW LITTLE ABOUT IT. CYSTIC FIBROSIS IS RELATIVELY
COMMON IN CALCASTION PEOPLE BUT RARE IN AFRICAN-AMERICAN. THE DISEASE IS VERY
UNCOMMON IN MONGOLIANS. FIVE PERCENT OF THE POPULATION IN THE UNITED STATES ARE
CARRIERS OF THE GENETIC DISEASE.
CYSTIC FIBROSIS, SOMETIMES CLASSIFIED AS MUCOVISCIDOSIS, IS A DISORDER
IN WHICH THE EXCRORINE GLANDS SECRETE ABNORMALLY THICK MUCUS. THIS LEADS TO THE
OBSTRUCTION OF THE PANCREAS AND CHRONIC INFECTIONS OF THE LUNGS, WHICH GENERALLY
CAUSES DEATH IN CHILDHOOD OR EARLY ADULTHOOD. SOME MILDLY AFFECTED PATIENTS MAY
SURVIVE LONGER. PATIENTS WITH PANCREATIC INSUFFICIENCY TAKE PANCREATIC ENZYMES
WITH MEALS. THOSE WITH RESPIRATORY INFECTIONS ARE TREATED WITH ANTIBIOTICS,
MOSTLY WITH AEROSOLS THAT RELIEVE CONSTRICTION OF THE AIRWAYS. PHYSICAL THERAPY
IS USED TO HELP PATIENTS COUGH UP THE OBSTRUCTING MUCUS. INTESTINAL OBSTRUCTION,
WHICH OCCURS MOSTLY IN INFANCY, MAY REQUIRE SURGERY.
IN 1989, RESEARCHERS FOND THE ABNORMAL GENE THAT CAUSES CYSTIC FIBROSIS.
THIS GENE IS LOCATED ON CHROMOSOME 7 . A PERSON WHO HAS TWO CYSTIC FIBROSIS
GENES HAS THE DISEASE . A PERSON THAT CARRIES ONE OF THE GENES DOES NOT HAVE THE
GENETIC DISEASE, BUT IS A CARRIER.
THE SYMPTOMS OF CYSTIC FIBROSIS SOMETIMES OCCUR IMMEDIATELY AFTER BIRTH.
MUCUS SECRETIONS MAY APPEAR IN THE BABY’S INTESTINES, WHICH CAN CAUSE
OBSTRUCTION IN THE INTESTINES. IN ALL CASES, THE CHILD WILL GAIN LITTLE WEIGHT
RIGHT FROM BIRTH, BECAUSE THE PANCREAS IS NOT PRODUCING ENZYMES. LITTLE TO NO
NUTRIENTS ARE ABSORBED IN THE CHILD’S SYSTEM. A CHILD WITH CYSTIC FIBROSIS MAY
HAVE REOCCURRING RESPIRATORY INFECTIONS, ALONG WITH COUGH AND FEVER. THIS MAY BE
MORE SEVERE AND PERSISTENT THAT NORMAL THIS IS A RESULT OF THE THICK, STICKY
MUCUS THAT WILL HOLD AND TRAP GERMS IN THE BRONCHIAL TUBES. IT SHOULD BE TAKEN
IN TO CONSIDERATION THAT CHILDREN WITH CYSTIC FIBROSIS HAVE LARGE APPETITES AND
EAT A GREAT DEAL. IN SPITE OF THEIR MALNUTRITION, THEY ART NOT IN PAIN AND DO
NOT GENERALLY FEEL IT.
EXTRACTS OF ANIMAL PANCREAS, IN POWDER OR GRANULE FORM, ARE PRESCRIBED
TO REPLACE THE MISSING ENZYMES FROM THE PANCREAS, AND THE AMOUNT OF FAT IS
DECREASED IN THE CHILD’S DIET. WITH THIS TREATMENT THE CHILD BEGINS TO GAIN
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
Those who have relatives diagnosed with Cystic Fibrosis are at an automatic increased risk to have the disease. For example, in order for a child to have cystic fibrosis, their parents must be carriers of the CF gene. “One CF gene fr...
A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has reached this organ, it halts digestive enzymes from reaching the intestines which aid in absorbing food, therefore affecting nearby organs (Davies, Alton, and Bush, 2007). Currently there are 9,000 people diagnosed with CF in England (CF Trust, 2011). It has been estimated that there is 1 in 10,000 South Asian sufferers in the UK alone (Kabra, Kabra, Lodha, Ghosh, Kapil et al, 2003; McCormick, Green, Mehta, 2002). Prior research-based literature that focuses on people with CF and their families covers some of the experience of living with the disease but displays some major gaps; none has specifically targeted South Asian individuals. Cross culturally this is also the case; the limited availability of CF research has influenced scientists to devote more attention in this area. For instance, information in regards to CF in Egypt is very limited; firstly CF has been believed to occur infrequently as there has not been a sufficient amount of known CF cases. Naguib, Schrijver, Gardner, Pique, Doss, Ze...
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
For a baby to have Cystic Fibrosis, he/she has to have precisely two defective cystic fibrosis genes from each of the parents. Both parents must be carriers of this condition. The parents will also not show any signs of having this condition. It is a recessive condition which explains why a majority of the carriers never have a clue when they are carriers. The problem lies on chromosome seven which has the defect in those people living with this condition. Typically, people have 46 chromosomes, which pair up forming 22 pairs in every nucleus in the human body (Wicks, 2007). The remaining two chromosomes are the sex chromosomes hence the seventh chromosome is the one that gets mutated causing Cystic Fibrosis. Some of the common symptoms of Cystic Fibrosis include persistent coughing, salty-tasting skin, wheezing and shortness of breath. Additionally, there is very poor weight gain despite excessive appetite, fleshy growths in the nose and bulky, greasy
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
gene. Millions of Americans carry the Cystic Fibrosis gene, but will never have any symptoms. They
Cystic Fibrosis is an autosomal recessive genetic disease affecting the exocrine glands and progressively gets worse over time. The production of unusually thick mucus is formed causing blockages of the pancreatic ducts, intestines, and bronchi. Though it majorly affects the respiratory and digestive systems, sweat glands and the reproductive system are affected too. “The result is malnutrition, poor growth, numerous respiratory infections and breathing difficulties” (Interactive Health Tutorials: Medline Plus). Cystic Fibrosis affects almost 30,000 Americans: it affects males and females equally. There are another 12,000 people who carry the Cystic Fibrosis gene, and can pass it to offspring if they reproduce with someone with a like gene. Usually, a person is diagnosed with the disease as an infant. The life expectancy for a person with Cystic Fibrosis is, on average, thirty years. There is no cure for Cystic Fibrosis, but with treatments and supplements, people with the disease can live a normal life.
“Cystic Fibrosis in Adults: From Researcher to Practitioner” written by Gregory P. Marelich and Carroll E. Cross discusses the in depth details of cystic fibrosis. Gregory Marelich is a Doctor of Medicine (M.D.) and has certifications in internal medicine, pulmonary disease, and critical care medicine. Carroll Cross is a Doctor of Medicine and a Bachelor of Arts (B.A.). She is certified in pulmonary disease and internal medicine. Both authors have experience working in multiple facilities in California and have a sufficient amount of knowledge to write articles pertaining to pulmonary or medical conditions. Throughout the article they exhibit their knowledge and understanding for the lung disease cystic fibrosis.
but no specific gene has been identified as a cause for it. It is quite rare. It usually
The gene is found on the seventh chromosome in humans and contains 27 DNA sequences encoding 1,480 amino acids (Genetics). They found that the genetic change of this gene occurs through various mutations in the Cystic Fibrosis transmembrance conductance regulator or CTFR gene. Today 1,200 mutations are so far known. However, 70% of cystic fibrosis cases are caused by a single mutation, this mutation causes a deletion an amino acid at position 508 in the CTFR gene (Genetics). Once deleted the CTFR protein folds improperly and breaks down shortly after being made. Ultimately, every mutation affects the genes normal function as a channel protein. The CTFR gene crosses the membrane of many cell types, which is why the disease is referred to as a multisystem condition (Cystic). These cells are in charge of producing sweat, saliva, and tears. Its target is chloride ions whose movement in and out of the cell regulates the concentration of water in the tissue (Cystic). The movement of water is so crucial because it is responsible for keeping the mucus in our bodies thin and freely moving. So when mutations occur to this channel protein the flow of chloride ions is disrupted ultimately leading to the build up of thick damaging mucus associated with the disease
About 1,000 new cases of cystic fibrosis are diagnosed each year and over 70,000 people are already diagnosed worldwide. Cystic Fibrosis is a genetic disorder that affects the lungs’ ability to secrete mucus properly. It’s gene and protein product cause the body to produce unusually thick and sticky mucus (CFF). Mucus is designed to lubricate the lungs, but the lungs of a patient with cystic fibrosis are prone to infection because of the thick mucus that traps bacteria and foreign materials. Instead of being expelled, the materials stay in the lungs and cause infections. The white blood cells die and create an even thicker substance. The mucus in the sinus cavities can also create upper respiratory infections and a nasally
A person is either a carrier of the defective CF gene, not a carrier of the CF gene, or will have cystic fibrosis. If a person has cystic fibrosis that means that the defective CF gene was received from each parent. If a person does not have two defective CF genes but does have one defective CF gene then he/she is a carrier of cystic fibrosis. There are more than seventy thousand people leaving with this disease worldwide, and most are diagnosed by the age of just two (“About Cystic Fibrosis,” n.d.). That is a very large population so as a nurse it is beneficial to know what this disease is and how and why it