Doctor insights on:
Is Meconium Plug Syndrome Only Associated With Cystic Fibrosis
Nil to chromosomal: Cystic hygroma can be found in healthy babies or in babies born with chromosome abnormalities. The outcome is generally better for a baby that does not have a chromosome abnormality. About 60% of cystic hygromas result from chromosome abnormalities. Common disorders associated with cystic hygroma are turner syndrome and trisomies. ...Read more
Kind of...: Cystic fibrosis (CF) is a genetic disease. Patients with the disease are born with a defective gene that is part of the body's system for making mucus, sweat, and digestive fluids. Their mucus is therefore abnormally thick and causes blockages in the lungs, pancreas and other organs that damage them and make them prone to infections and other problems. ...Read more
Old Days: Back in the "old days, " patients with CF would frequently die, and the autopsy findings of the lungs showed scarring ("fibrosis") and bubbles ("cysts, " "cystic"). Thus, it was called cystic fibrosis. We know much more now about this disease, but the old name stuck. ...Read moreSee 1 more doctor answer
Yes: Meconium is the normal fecal debris composing the accumulated intestinal contents at birth.It is heavily colored by bile, dark and sticky. Meconium ileus can occur when the meconium has abnormal glue like stickiness caused by CF and will not empty from the bowel.The blockage can require emergency surgery. ...Read more
No relationship: Biliary atresia is a condition in the young where the bile duct system of the liver closes down destroying liver function and leading to cirrhosis. Fibrosarcoma is a soft tissue lesion primary found as a mass arising in muscle tissue which best responds to surgical resection, but left alone will metastasize to organs like the lung. ...Read moreSee 2 more doctor answers
Genetic disorder: CF is an autosomal recessive genetic disorder. The infant must inherit a CF gene from both parents (who are CF gene carriers) to be born with this disorder. This disorder occurs in one out of every 3, 500 white births and one out of every 20, 000 black births. All 50 states now have newborn screening programs to identify infants born with cf. ...Read moreSee 1 more doctor answer
Autosomal recessive: CF is an autosomal recessive genetic disorder. Complete expression of the disease (symptoms) do not typically occur in people who do not have both copies of the defective gene (carriers only have one). ...Read more
Is their there significant risk of cancer or disease with asymptomatic Cystic Fibrosis Carrier? Should one be worried?
No Risks For You: Cystic Fibrosis is a genetic disease causing secretions from mucus & sweat glands to thicken which interferes with function of many organs, mainly lungs, GI tract, & more. It is inherited as autosomal recessive pattern meaning a gene must be inherited from both parents. Having only 1 gene is the carrier state meaning you can pass along the gene but there are no risks related to CF for a carrier. ...Read moreSee 1 more doctor answer
Yes: Eds is a disease of the connective tissue with several sub-types. The connective tissue layer of the arteries can be affected and this can lead to cystic medial necrosis. This is a degenerative disease of the media of the aorta and other arteries with loss of elastic tissue and muscle cells. It is a pathological substrate for aortic dissection. Not all people affected get cmn. ...Read moreSee 1 more doctor answer
Bilaterally which is a nonspecific finding that can be associated with polycystic ovarian syndrome does this mean I can't have children
CF gene mutations: There are currently more than 1900 mutations that are known to cause cf. About 70% of CF pts in us have deltaf508 mutation, as 1 in every 25 persons is a carrier for this mutation. All these mutations result in abnormal activity of a protein called cftr which causes all the CF related problems. Genetic testing can give the specific mutation each pt has. Talk to your local CF center. ...Read more
Cellular defect: Not to sound too technical, but cystic fibrosis (CF) is a genetic disorder that causes the chloride channels in cells to malfunction. As a result, the cells in the body are not able to transport chloride back and forth from the outside to the inside of the cells normally. This causes problems in the lungs, intestines, pancreas, and other organs. Presently there is not cure. ...Read more
My wife & son passed california newborn screening for CF, does that mean odds are low for typical cystic fibrosis or mild form?
Newborn screening : for Cystic Fibrosis is done by Immunoreactive Trypsinogen, IRT. If othe IRT level is ^, DNA tests for CF gene mutations are done on blood on the Guthrie card. CF Foundation-accredited Care Centers in CA look for an "intermediate" sweat chloride result in young infants who do not gain wt. & have bad gas, abdominal pain & loose or hard stools &/or wheezing/coughing for > 2 wks. to diagnose CRMS. ...Read more
Is fetal alcohol syndrome hereditary or is there a hereditary disposition associated with getting it?
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