Related Questions

Help please! Could cystic fibrosis be passed through offspring?

Confusing question. An estimated 1/20 people carry one mutation of the CF gene and if they have children with another carrier they have a chance every time to produce a CF affected baby. That CF baby has diminished fertility but may have kids and only if they marry a carrier will their kids have risk, as high as 50%. Read more...

My baby was born 4 weeks early and had a meconium plug that didn't pass till hour 57. Cystic fibrosis has been ruled out. What are the chances it's hirschsprungs? Or could it just be chance?

Likely it's chance. CF is one of the causes of meconium plug, but mostly it's a random happenstance. Ruling out CF is important. As long as your child is starting to have normal stools now, and they are fairly regular, it's very unlikely it's hirschsprungs. Generally anal stenosis, hirschsprungs, or other forms of obstruction would cause chronic constipation. If your child is stooling normally, i'd go with it. Read more...
Still small. Is the baby a boy? Chance is 1/5000 but about 1/1000 for boys. Having a late first bm is a sign but in a premature baby everything is off. If the baby's belly is soft and bowl movements are now regular then not to worry. Make sure you voice your concern to the pediatrician. Read more...
Hirschsprung Dis:(H) Due to absence of ganglion cells in lower bowel wall, extending from anus up. Seen in full term (less in preterm), m:f = 4:1, increase familial incidence, may be associated with other anomalies. 99% full term infant passes meconeum in 48 hrs of birth, h pts. Passes late, becomes chronically constipated. Check bowel movement. If chr. Constipation talk to pcp. Tests: rectal manometry/ suction biopsy. Read more...
Mecon. plug syndrome. Meconium plug syndrome has been described in infants born premature or of diabetic mothers. Essentially there is immaturity of ganglion cells in large bowel. This is a transient problem that does usually not cause difficulties later on in life. Initially child needs stimulation to bowel, enema etc, to move the plug out of bowel.Radiographic enema sometimes shows characteristic pattern. Read more...

Could a 49 year old develop cystic fibrosis?

Yes and No. Patients are born with cystic fibrosis. However it can take many years for the disease to become apparent in some patients. Thus, it is possible to be diagnosed with CF later in life but not to develop CF later in life. Read more...
Detection. It is possible to have a mild variant of CF that is detected later in life; 49 would likely be the oldest so declared. The gene that codes for the sodium-chloride transporter can be mutated in various ways that cause cf. If you do have cf, the disease was present all your life but mild enough that you did not notice until later on. Read more...

If I have cystic fibrosis, could I be an organ doner?

Organ Donation. Organ donation is possible and should be discussed with Lifelink. Many people do not realize that other useful tissues like heart valves, tendons, corneas are part of the donation process as well and can help recipients. In CF lungs heart, pancreas and liver are likely not able to be shared. See Lifelink http://www.lifelinkfound.org/index.cfm. Read more...

Could a child under 2 be diagnosed with cystic fibrosis?

Yes. All 50 states now have newborn screening for cystic fibrosis. Newborn screening should identify over 95% of infants with cystic fibrosis. An abnormal sweat test or genetic testing showing 2 mutations are the most common tests to confirm the diagnosis of cf. The earlier comprehensive care is started at a CF center (www.Cff.Org) the better the outcome. Read more...
Yes. CF is an inherited disorder that requires 2 mutations (1 from mother & 1 from father) to lead to the clinical disease. If you have it, you were born with it. Many states in the U.S. Perform newborn screening that can pick the disease up at birth, but it can go undiagnosed for years in some cases. Read more...

Please describe the direct biological effect of cystic fibrosis?

Gene defect. A defective gene results in alteration of a protein that regulates movement of salt and water in and out of cells. This leads to thick sticky mucus and very salty sweat. The thick mucus can block tubes both in the lungs and in the abdomen, especially the pancreas. Read more...