Cystic Fibrosis : A Genetic Disorder

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.

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,"

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

Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve

Cystic fibrosis (CF) is an inherited autosomal recessive disorder that affects the lungs and digestive system most often. In the United States some 30,000 children and adults have CF. There are approximately 1,000 new cases of cystic fibrosis diagnosed each year in the US with 70% of patients diagnosed with CF by the age of two, 40% of patients with CF are 18 or older. In the 1950's most children with CF did not survive to attend elementary school, but in 2006 the median age of survival was 37 years (Cystic Fibrosis Foundation, 2007).

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease affecting Canadians (2). CF can affect multiple organs; however, the most fatal symptoms occur in the lung. As of 2013, the median age of survival for CF is roughly 50 years old with treatment (3). However, patient life-span decreases dramatically when treatment options such as antibiotics and enzymes are not administered, and nutritional changes or lung transplants are not made (3). Currently, there is no cure for CF, although current treatments can improve patient outcome.

Cystic Fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) which is located in the middle of chromosome 7. The CFTR gene encodes a protein of the same name. This protein functions as a “channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes” (Genetics Home Reference, 2015). The channel transports chloride ions which are negatively charged particles, in and out of cells which help in controlling the water movement in tissues to allow for the production of thin, feely flowing mucus, a substance that lubricates and lines the airways, digestive system, reproductive system and other tissues and

Do you suffer with Cystic fibrosis? If so, you may qualify for Social Security Disability Income benefits. Cystic fibrosis is an illness that can be treated, but cannot be cured. The affects of this disease can cause severe damage to the digestive track and to the lungs. Cystic fibrosis attacks the mucus membranes and digestive juices. Cystic fibrosis also causes infertility in women by blocking the fallopian tubes with mucus.

Imagine having a baby. You are completely in love with this baby. You watch him grow, learn to rollover, and say his first words. After getting to know this baby so well, and being in complete adoration, your precious 1 year old dies. Or what if you get to know your child for 12 years, but then you have to watch them die slowly from suffocation because their lungs have inflamed too much for them to breathe. This happens because of genetic disorders. The first example, SCIDs, second example, Cystic Fibrosis. Where do humans get these diseases? From human genes. Researchers are just beginning to use genetic technology to reveal the genomic contributions to these different phenotypes, and as they do so, they are also discovering a variety of other

Cystic Fibrosis is a genetic disorder caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The inheritance pattern is autosomal recessive. This means, to have symptoms of CF, you must have two defective CFTR genes, by inheriting a mutant copy of the CFTR gene from both your mother and your father. If you inherit a single defective CFTR gene from either your mother or your father, you are a “carrier” of the disease, but do not show symptoms, since it is a recessive gene. However, you could pass the gene onto your child and they could end up having cystic fibrosis, even if you do not have it. The CFTR gene makes a protein that controls how much salt and water move in and out of the body’s cells.

The patients in the anemia group include patients that presented with severe anemia without respiratory symptoms as the initial symptom and the control group included patients without anemia but other initial symptoms such as respiratory infections, vomiting, diarrhea and failure to thrive (Early Severe Anemia as the First Sign of Cystic Fibrosis). Pediatric hematologists evaluated all the patients in the anemia group and determined the etiology of the anemia. Although no significant differences where noted between the feeds, gender, pancreatic function or types of mutation between the two groups, it was noted that the patients in the anemia group had a significantly lower albumin levels than those in the control group.

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

Cystic fibrosis is an autosomal recessive condition that is caused by the mutation of the cystic fibrosis trans-membrane conductance regulator (Doring & Hoiby, 2008). The mutation affects the absorption of chloride ions which impairs the movement of sodium and water at the cellular level. This results in production of abnormally thick secretions that cause inflammation and damage to the cell. This affects the functioning of the organs. It is one of the most common genetic disorders that affects Europeans. Statistics indicating that one out of 2381 people in the United Kingdom suffer from the condition (Cuthbert, 2011).