50s.
50s.
This patient has cystic fibrosis. cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system it is usually caused by a defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life threatening lung infections and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food. The mutated gene is the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive…
Male reproductive tract – males with CF are sterile due to degeneration and/or obstruction of the vas deferens.…
Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and one strand must be inherited from each parent. Therefore, not all children of people with this condition develop it. But of course they are at increased risks of developing the condition. Both parents must either have Cystic Fibrosis, or be a carrier. Since it is a recessive gene, if a child has parents with Cystic Fibrosis and does not develop the condition, he or she will still have the recessive gene and become a carrier. Therefore, their children will now be at risk (Moe, 1992, p. 70).…
| * Children with cystic fibrosis usually suffer from really bad chest infections. * It affects other systems in the body. It is difficult for children to get nutrients from their food. * They are likely to have problems with their bowel movements. * The child may develop diabetes.…
C. Crohn’s Disease mainly affects the end of the small bowel and the beginning of the colon, but occasionally it affects parts of the gastrointestinal tract anywhere from the mouth to the anus.…
Is an illness which is genetically passed on, it is caused by a defective gene. The cystic fibrosis gene is recessive, this means that if a child has a parent who carries the gene they will not get the illness unless the other parent also carries the gene however, there is a 1 in 4 chance of catching the disease. Cystic fibrosis causes excess production of a defective protein that causes the lungs to become full of sticky thick mucus. Sufferers of Cystic fibrosis can have…
As well as the individual that suffers from the disease it is also important that the direct family members and friends of this individual can receive some sort of support from a group. Family members or friends could use some practical advice or some sort of emotional and financial support. It could be a stressful time when an individual is diagnosed with cystic fibrosis.…
1. What are the symptoms of cystic fibrosis and PKU with respect to the digestive system?…
Cystic Fibrosis is caused by a fault in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 at q31.2. For CF to be expressed, a faulty copy of the gene must be present at both alleles; autosomal recessive. Therefore both parents must be carriers of, or affected by the cystic fibrosis gene (fig. 1) for the gene to be passed on. If a person has one copy of the faulty allele (are heterozygous) they are carriers of the gene and can pass this allele on; if they possess two copies of the faulty allele (are homozygous), they will have CF. People who have CF must consider that their children will definitely be carriers at the very least, and depending on the genotype of their partner, may also suffer from CF.…
Cystic fibrosis is an inherited disease of secretory glands, including the glands that make mucus and sweat. "Inherited" means that the disease is passed through the genes from parents to children1, 2. People who have cystic fibrosis inherit two faulty cystic fibrosis genes one from each parent. The parents likely don't have the disease themselves. Cystic fibrosis mostly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. Mucus is a substance made by the lining of some body tissues. Normally, mucus is a slippery, watery substance3, 4. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. However, if have cystic fibrosis, mucus becomes thick and sticky. The mucus builds up in lungs and blocks airways, the tubes that…
Cystic fibrosis is a recessive trait. If you have one CF gene and one non-CF gene, you will be a carrier but not have CF. I referred back to Mendel mentioning that the trait may not show up in somebody but it can still be passed on to the next generation. He also states that the inheritance of each trait is determined by genes that are passed on unchanged. So as the CF gene is not present, it becomes present depending on the ratio of genes as it passes down.…
The CFTR protein is responsible for functioning as a channel for chloride ions (salt) in and out of cells. Changes in the CFTR gene can consequently change the quality and structure of the protein CFTR being created. The CFTR gene has 27 segments called exons which produce a complete mRNA message. The message is then translated into a chain amino acids which take the structure according to the message. Normally, the amino acids will produce a CFTR protein that will position in the cell membrane and function as a channel for ions. Any mutation in the gene or incorrect sequencing prohibits the channel from functioning and being positioned in the membrane adequately. Over 1,000 mutations of the CFTR gene is responsible for CF, however, the most common are due to the deletion of 3 nucleotides in the gene. The 3 nucleotides are responsible for the production of the amino acid (phenylalanine). This is denoted as ∆F508 and is found in 90% of CF…
The earliest diagnosis and treatment was of Crohn’s disease was dated as early as between 460-370 BCE during the Greek era. However, they did not know what it was and what to call it until two doctors that researched the disease and also named it Crohn's disease after Dr. Burrill Crohn. It is a family member to ulcerative colitis which also deals with the inflammatory bowel disease. It is when the body thinks it has bad bacteria in the body and it tries to fight it but in reality, it’s good bacteria. This is a non-curable disease. However, they have found ways to keep the patient comfortable and minimize the effects and discomfort. For example, people can change their diet. The patient should know that there will be periods of time…
Cystic Fibrosis is a fatal genetic disorder that effect’s many organ systems in the body. It is estimated that CF effects 30,000 adults and children in the United States, with approximately 1,000 new cases diagnosed each year. Cystic Fibrosis is most prevalent among white but affects all ethnic groups.…
For the majority of their lives, living with Cystic Fibrosis has been an uphill battle. Ultimately, the end result of the progression of Cystic Fibrosis is lung transplantation. They were able to keep their own lungs for around 30 years. “Lung transplantation for patients with severely advanced cystic fibrosis lung disease may be a treatment option. The tissues of the transplanted lung do not develop cystic fibrosis; however, any other involved systems remain diseased. Between 120 and 150 patients with cystic fibrosis undergo lung transplantation each year with a 5-year survival rate of about 50%” (Scott, 2013). In order to even qualify for transplantation, it had to be proven that they were vigilant with caring for themselves and were consistent with treatments and medications. It has been around 10 years since they have had their double lung transplants. So they have beat those statistics as well. There were many days when one would want to skip a treatment or cut it short and the other was there to not allow it. They attribute their health and lives to having each other. Having up to five treatments a day, growing up, gets old fast. Being vigilant in living with Cystic Fibrosis requires hours of attention everyday in order to prevent a downward…