Doctor insights on:
Oldest Person With Cystic Fibrosis
Not that noticeable: Usually the saltiness of the skin is not extremely noticeable and may not be noticeable at all. ...Read more
Varies: Not everyone has a similar experience post lung transplant. In general, respiratory symptoms and breathing, overall improve, and people are able to do activities they were not able to do before as easily. Not all respiratory symptoms go away. Various medications are required and close follow up is mandatory. Survival after lung transplantation is ~ 50% at 5 years. ...Read more
Varies: Newborns can present with bowel obstruction from lthickened meconium, early stool, from lack of normal enzymes. Sometimes bowel atresia and twisted bowel in utero are other manifestations. In child, respiratory symptoms may result with over aeration and asthmatic symptoms from mucus plugging in lungs. Malabsorption, fatty liver, and anemia in early childhood. Some mild forms do not show until later. ...Read more
Extra loss: Cystic fibrosis is caused by a genetic mutation of cftr protein that moves chloride ions out of cells in respiratory tract, but into the cells in sweat gland ducts. Since cftr protein is not functional in CF pts, excess chloride gets secreted in their sweat, which causes the sweat to have higher salt concentration. That is why a sweat test measuring chloride is used as a diagnostic test for cf. ...Read more
Pancreatic insuffic: The pancrease (pancrelipase) is the organ that (among other things) secretes enzymes that help the body absorb fat. In CF the pancrease (pancrelipase) can become clogged and fail to do this... So the patient needs to take enzymes orally. Additionally, when the lungs are injured enough, cfers will start having a lack of appetite as well, the cause of this is less clear. ...Read more
Is it possible for a person to have a "minor" form of cystic fibrosis so-to-speak? And if yes, how would it manifest?
Yes: I would rather use a term "mild" or "atypical" instead of minor form of cystic fibrosis. Cystic fibrosis is caused by mutation involving cftr gene, and there are a few hundred different mutations. Atypical or mild form of CF manifest at a later age than in infancy as often seen in classic form, and mild in symptoms. ...Read more
What happens if there is an intrapulmonary shunt or the person has cystic fibrosis, can they survive on a ventilator?
Yes: Shunts and CF do not preclude survival on a ventilator. It may be more difficult to clear secretions from CF on ventilator but can be done ...Read more
Certainly: Cystic Fibrosis (CF) most common life-limiting genetic disorder of Caucasians, affecting approximately 30K people in the US. A, impacting mainly respiratory function. In recent years patients symptoms better controlled by genetic findings and better medications. Emotional & phys. Development depend on severity, time in hospital, complications. Morb. & mort. Factors afect emotional, cognitive behavior. ...Read more
As a carrier:
Genetic carrier testing:
more than 10 million americans are symptomless carriers of the defective CF gene. This blood test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child must inherit one copy of the defective CF gene from each parent. ...Read more
I have family members with cystic fibrosis. Is it possible to start show the symptoms in my 20's?
What are the chances of a child getting cystic fibrosis among the different racial groups in the u.S.?
Acording to the CF foundation: the overall birth prevalence is 1/3700. It can occur in any race, however the greatest incidence is in caucasians of northern european descent, being 1/2500. The other major groups affected are hispanics 1/13500, african americans 1/15000.
More than 10 million of us carry one part of the defective gene, but to have the disease you must have a copy from both parents. ...Read more
Genetic disorder: It is a genetic disorder characterized by abnormal sodium channels, which affect a great deal of problems including the respiratory and digestive systems. It is most commonly diagnosed in infants failing to gain appropriate weight, and in children who have multiple chronic infections. ...Read more
Inherited disease: Cystic fibrosis (CF) is an inherited disease that affects the cells lining the lungs, sinuses, intestines, spleen and liver. It prevents chloride ions from crossing the cell membranes properly. This can clog organ ducts. In the lungs, the extra mucus crushes the cilia and leads to more lung infections. Medications can help; in late-stage disease, lung transplantation may be life-saving. ...Read more
Depends on genes: The risk of acquiring cystic fibrosis (CF) depends on whether the parents of a child are carriers for the gene. It is estimated that about 1 in 20 americans are carriers of the CF gene. In order for a child to acquire the disease, both parents must be carriers. If both parents are carriers, there is then a 25% chance that the child will acquire the disease. ...Read more
Cystic fibrosis: CF is a genetic disease that from birth causes the body to produce a thick and sticky mucus. This mucus interferes with the ability to breath and digest food. It is life threatening, but with good management people can live into their 40s and beyond with it. ...Read more
Autosomal recessive.: Cystic fibrosis (CF) is not sex-linked, but autosomal recessive. That means both parents can be silent carriers--totally unaware--then each passes down this recessive (inactive) gene to their child. This child develops CF because both copies of the formerly inactive gene (1 from each parent) now have no genetic "brake" (normal dominant gene) to prevent the CF gene from expressing itself. ...Read more