Doctor insights on:
Signs Of Cystic Fibrosis In Toddlers
My 2 year old son had a throat culture that came back with a high reading of pseudomonas, is this a sign of cystic fibrosis?
Need to rule CF out: I would have the culture repeated. Unfortunately, studies have shown 49% of 2 year olds had positive throat cultures for pseudomonas aeruginosa. Sweat testing and genetic testing should be performed. Check to see if newborn blood screen tested for cystic fibrosis (cf). ...Read moreSee 1 more doctor answer
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
Yes: Yes it is possible. Presentation of cystic fibrosis varies greatly, and it is possible, depending on your specific mutation (and other factors) to present at a later age. In order to prevent late diagnoses, all states now have a newborn screen in place for cystic fibrosis. ...Read moreSee 1 more doctor answer
What are the chances of a child getting cystic fibrosis among the different racial groups in the u.S.?
Overall 1/3700: 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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
Cough, poor growth: Common symptoms of cystic fibrosis include cough, wheeze, recurrent lung infections, poor growth, foul smelling stools, salty sweat, clubbing, and rectal prolapse. The more symptoms the greater the chance of having cystic fibrosis. Most infants today are diagnosed by newborn screening for CF before they develop any symptoms and early therapy can minimize disease symptoms. ...Read more
Variable: This depends on the individual patient. There are several hundred CF mutations that have varying degrees of severity. The most common mutation, df508, can cause failure to thrive in infants, recurrent and very serious lung infections during childhood and often pancreatic insufficiency in children. While early diagnosis and preventive treatment have improved, CF is still a fatal disease. ...Read moreSee 1 more doctor answer
Get tested: Testing for cystic fibrosis starts with a sweat test. If that is abnormal, genetic testing in the blood is used to confirm the diagnosis by finding the specific genetic mutations. In general, people with CF have recurrent pulmonary infections and abdominal discomfort/diarrhea due to fat malabsorption. ...Read moreSee 1 more doctor answer
Recessive gene: A mutation is carried in the dna of both unaffected parents & that matching or similar mutation is paired up at conception when the sperm & egg form completed chromasomes with the defective info. Late in pregnancy and after delivery, the effect of the CF gene abnormality begins to reveal itself. In carriers, the good gene compensates for the bad & no problems occur. ...Read more
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