Question One: The physician asked the mother of the infant if the infant's skin was salty because one of the symptoms of cystic fibrosis is having thick and heavy mucous ... and salty sweat. When the CFTR (Cystic Fibrosis Trans membrane Conductance Regulator) protein is defective, epithelial cells can't regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs.…
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).…
Cystic fibrosis is a genetic disease, and it is inherited by autosomal recessive, which means that there must be two copies of an abnormal gene and it has to be present in order for the disease or trait to develop. While I was learning about autosomal recessive, I learned that gene’s come in pairs and both pairs must be defective to cause a disease. As I looked deeper into Cystic fibrosis I learned that it affects the respiratory system and also the digestive system. This disease is a defect in the chromosome 7, chromosome 7 is also known as CFTR or cystic fibrosis transmembrane conductance regulator. Like most diseases these days the way it affects someone or shows in someone depends on the severity of the disease. For instance, the way cystic fibrosis shows in a child may be completely different compared to someone in there later ages. For the most part the symptoms are always the same for both the respiratory and the digestive system. When it comes to the respiratory system the symptoms that you need to look for is a constant cough that produces a lot of mucus, Wheezing or feeling breathlessness. Always having a stuffy nose and not being able to exercise the way you may want too is also a symptoms due to the respiratory system. As you can tell from the…
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…
Symptoms for cystic fibrosis include diarrhea that does not go away, foul-smelling stools, greasy stools, frequent urinating, frequent episodes of Pneumonia, persistent cough, skin tastes like salt, poor growth, chronic sinus infection.…
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.…
Cystic fibrosis (CF) is a lifelong hereditary/genetic disorder, meaning the disease can be passed on from parent to child and can be inherited. CF is not contagious. Both parents must be either a carrier or suffer from CF for the disease to be passed on however carriers show no symptoms that a suffer does. CF affects the respiratory system; mainly the lungs and some parts of the digestive and reproductive systems including the pancreas, liver and the vas deferens in males. This is due to a malfunction of the exocrine system (system responsible for the excretion of sweat, saliva, tears, and mucus).…
Cystic fibrosis is caused by mutations (changes) in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents. Cystic fibrosis occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator) (Warrell,2003). A person with CF produces abnormal CFTR protein — or no CFTR protein at all, which causes the body to make thick, sticky mucus instead of the thin, watery kind.…
Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are ‘CF carriers’. CF carriers usually have no symptoms of CF and live normal lives, however they can pass the faulty CFTR gene to their children.…
What is cystic fibrosis? Cystic fibrosis is a disease that is passed down through families, from parent to child due to a faulty gene. It currently affects both babies, children and young adults. This faulty gene controls the movement of salt and water in and out of the cells, so the lungs and digestive system become so clogged with mucus, it makes it hard to breathe and digest food.…
This disease is caused by a mutation in a gene causing the body to produce excess amounts of mucus, that then builds up and creates difficulty in breathing and digestion (Cystic). Symptoms vary based on the function they affect such as bowels, or lungs and sinuses. Weight loss, fatigue, fever, loss of appetite, shortness of breath, increased gas and bloating, and severe constipation are just a few of the many serious symptoms of cystic fibrosis. Cystic fibrosis can start as early as newborns causing them delayed growth, lack of bowel movements in up to the first 48 hours of life, and salty-tasting skin. High salt levels found in perspiration can be a good indicator of the disease…
Spending a lot of their time in the hospital setting, they decided to make the most of it. Their parents raised them to look at their disease as an opportunity and a challenge. The twins were determined to beat the odds. And beat the odds they did. Isabel and Anabel grew up with a very strong support group. Their parents were always their for them and exposed them to other kids their age struggling with Cystic Fibrosis. They talked about going to camps every summer that were specifically for kids with Cystic Fibrosis. Throughout the years, the twins have met many doctors and nurses who have helped educate and motivate them through this challenging journey. Having this illness has really opened their eyes to the fact that they still have healthy minds, to not take advantage of the time they have on this earth, and that they are more than their bodies. Accepting and letting go of the fact that they have Cystic Fibrosis and will have it forever was the first step to a motivated and positive mindset. The twins strongly believe that they can do anything they set their minds…
Cystic fibrosis has been a major part of not only my life , but my families’ lives too. I have two sisters , my twin Alani, and my oldest sister Adriana ,who also suffer from cystic fibrosis . Our family supports us everyday to help fight this disease .…