Cystic Fibrosis: Genetic Disease

Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of these genes keeping

Cystic Fibrosis is a life threatening condition that causes severe damage to the lungs and digestive system. Developing this condition can change a person's entire life. Depending on the severity of the condition a person can be affected by mild symptoms such as shortness of breath, all the way to severe symptoms such as rectal prolapse, or even death. Screening is done on infants in all 50 states; therefore if a child has inherited Cystic Fibrosis it will be known in the first months of life. As professional staff members of a nursing community it will be necessary to help prepare the child and the family for the life of Cystic Fibrosis.

Cystic Fibrosis causes abnormal amounts of excessively thick and sticky mucus to develop within the lungs, airways and the digestive system. Due to the thick and sticky mucus, digestive functions in the pancreas are impaired and bacteria is trapped in the lungs causing recurrent lung infections. Cystic Fibrosis Victoria (2015) states that symptoms of Cystic Fibrosis can include:

Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive

Nausea and loss of appetite, and weight loss. There are also a lot of symptoms if you have Cystic Fibrosis in you lungs and respiratory system such as coughing or increased mucus in the sinuses or lungs, fatigue, nasal congestion, repeated episodes of pneumonia, fever, increased coughing and shortness of breath, increased mucus, loss of appetite, and sinus pain or pressure caused by infection or polyps. Also with Cystic Fibrosis you could only experience symptoms later in your life like infertility (in men), repeated inflammation of the pancreas, respiratory symptoms, and clubbed fingers. One general symptom of Cystic Fibrosis is salty tasting skin. The treatment for Cystic Fibrosis is fairly mild with only treatment through antibiotics, inhaled medicines to clear the airways, a lung transplant in extreme cases, and oxygen therapy if a lung infection becomes really bad. Treatment for Cystic Fibrosis that impacts your digestive system is also pretty mild. It can be treated with a special high protein and high calorie diet, ingestible pancreatic enzymes, and vitamin

What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic Fibrosis,"

Cystic Fibrosis is a genetic disease that causes the body’s lungs to generate a different type of mucus than a non-infected body would. The contaminated lungs will produce mucus that is thick and adhesive which clogs the lungs and leads to an unpleasant and abhorrent lung infection. CF also interferes with the pancreas, disallowing the digestive enzymes from breaking down and absorbing food in the intestine. This can result in low nutrition, feeble growth, excessive sweat production, difficulties in breathing, and sometimes lung disease. When producing extra sweat and mucus, the body loses salt. If too much salt is lost, it can cause abnormal heart rhythms, disturbance of minerals in the blood, and perhaps, shock.

Five year old Ellis Miles undergoes numerous treatments each day to counteract the symptoms that accompany cystic fibrosis including physiotherapy, pills containing digestive enzymes, and a treatment which breaks up the mucus in her lungs. Cystic Fibrosis has numerous life threatening symptoms and while there is no cure, there are several treatments that a typical patient undergoes each day to combat these symptoms. The most prominent symptom associated with Cystic Fibrosis is a thick mucus that clogs up tubes that carry out crucial roles in the human body. This mucus especially affects the respiratory tract. Mucus builds up in the respiratory tract making it difficult for individuals with cystic fibrosis to have a frequent cough that produces a thick

Cystic Fibrosis affects 1 in every 2,500 children at birth. (ncbi.nlm.nih.gov) Cystic Fibrosis, or CF, is a genetic disorder. A genetic disorder is inherited, and is contributed to by both parents. (lung.org) Each parent has one abnormal gene. (lung.org) Cystic Fibrosis is where the body can not make, or it makes an abnormal version of the CFTR protein. CFTR is also known as cystic fibrosis transmembrane regulator. There are several symptoms, and causes of Cystic Fibrosis. These symptoms are diagnosed, according to what causes CF. Cystic Fibrosis is an inherited disease, that when after diagnosed, doctors will suggest treatments to help with the condition. Cystic Fibrosis is most common in white infants, but can

Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is

The signs and symptoms of Cystic Fibrosis are going to involve the respiratory, gastrointestinal, reproductive and occasionally sweat glands. Usually we will see symptoms as early as birth as well as later in life. The very firsts signs of CF are noticed by parents on a new born child, when the child does not pass his stool(meconium) as well as a salty sweat in the forehead when kissed. (Health, 2013) Some relative sign and symptoms of the respiratory system include: cough, thick sputum, lung infections and sinus infections. The digestive system symptoms are a result of mucus blocking ducts and tubes. Constipation, stomach pain, Diarrhea, foul-smelling, greasy stools and poor weight gain are some of the main sings of CF. In the reproductive system females will have a hard time conceiving due to mucus in the cervix whereas males are considered infertile because they are born without a vas deferens tube. Other common signs and symptoms mostly seen with patient who have CF are salty sweat, fatigue, weakness, increased heart rate and decreased blood pressure.

Cystic fibrosis (CF) is a life-threatening genetic disease, explicitly an autosomal recessive genetic disorder, which primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States have CF (Song, Chiu, & Yoon, 2012). According to the Cystic Fibrosis Foundation, “In the 1950s, few children with CF lived to attend elementary school”("Cystic Fibrosis Foundation," 2014, p. 1). It is important to recognize the progress that has been made on diagnosing CF, as well as the numerous treatments that have figuratively, and in a sense, literally given a breath of life to those affected by Cystic Fibrosis. The advancement in diagnostic screening at birth and specific presenting symptoms, provide physicians and practitioners the opportunity to examine and aggressively treat CF from an early age, yielding a considerable positive impact on the life expectancy of those with CF. “During the past 3 decades, treatment advances have raised the median predicted survival age in the United States from 25 years (1985), to 37.4 years (2008)”(Song, Chiu, & Yoon, 2012, p. 132).

Cystic fibrosis is due to a mutation in the gene that encodes cystic fibrosis transmembrane conductance regulator (CFTR) protein. It effects the exocrine glands which are responsible for making mucus and sweat. It causes a thickening of the mucus in your body and increases the salt content of your sweat. These can lead to problems including problems absorbing oxygen, lung infections, inhibit digestive enzymes from reaching your small intestine, dehydration, increased heart rate, lower blood pressure, and infertility. It can also have an effect on reproduction, causing difficulty for women to conceive and infertility in men. People who suffer with cystic fibrosis are also at a higher risk of getting diabetes, liver disease, osteopenia and

Here are some other changes affecting CF patients: Crackles, non-productive or productive cough, physical changes to the chest cavity, cyanosis, and clubbing of the fingernails. Genetic testing should be done since cystic fibrosis is an inherited disorder. Those affected with cystic fibrosis have parents “who do not have cystic fibrosis but are heterozygotes or carriers of the disease. A heterozygote has 1 dominant allele and 1 recessive allele.” (Grossman & Grossman, 2005, p. 46) My co-worker and her spouse are heterozygotes, and they have a 50/50 chance of having a cystic fibrosis child, they were not lucky with the odds and both their sons are affected with cystic fibrosis. These

Cystic Fibrosis is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired