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 affects the cells that produce mucus, sweat and digestive juices which are usually thin and slippery. In patients who have this condition inherited the gene that causes these fluids to become very thick and sticky. This can cause potentially fatal clogging in tubes and passages in the lungs instead of acting as a lubricant as they are intended to. This mutated gene impairs the cells ability to regulate the passage of salt through the membrane. This is what causes the mucus to be thick and sticky and also causes very salty sweat. (Diseases, 1997, p. 94). Parents can often taste the salt on their children's skin when they kiss them.…
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…
Cystic Fibrosis is considered to be a recessive trait. If a person has only one of the Cystic Fibrosis gene and one of the non-Cystic Fibrosis genes, the person could be a carrier of the Cystic fibrosis gene without having the Cystic Fibrosis disease. Referring back to the mentioning of Mendel, which states that the traits may not show up in a person but still can be passed down to the other generation. Mendel also mentioned that the inheritance of each of the trait can be determined by the genes that can pass down unchanged. Therefore if the Cystic Fibrosis gene is not present, it can become present dependent on the ratio of the amount of genes when it passes down.…
Cystic Fibrosis, also known as mucovoidosis, or mucoviscidosis, is an incurable, inherited genetic condition caused by two homozygous recessive alleles. In order for a child to inherit this disorder, both of its parents must either be a sufferer or carrier of the gene. The condition itself is caused by a faulty gene found on chromosome seven that controls the movement of salt and water through the cell membrane.…
Because CF produces thick mucus within the respiratory tract, kids with CF may suffer from nasal congestion, sinus problems, wheezing, and asthma-like symptoms. As CF symptoms progress, they can develop a chronic cough that produces globs of thick, heavy, discolored mucus. They also may suffer from repeated lung infections.…
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).…
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…
The Human Race, almost inherently, has developed quite the propensity for taking things for granted. Whether it be indoor plumbing, air conditioning, eating on a daily basis, or having clean socks to wear, you can bet we don’t appreciate it like we should. The majority of the population carries on their whole life like this; totally ignorant of how truly lucky they are. Then, there’s a small piece of the pie that is born, for lack of a better word, unlucky. Very, VERY unlucky. I just so happen to be closely related to one of these “unlucky” individuals. No, he’s not unlucky because he’s married to my sister (which I’m sure pains him on some occasion, anyway) but rather because he was born with Cystic Fibrosis, or CF, to those of us “in the know”……
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…