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Doctor insights on: Cystic Fibrosis Cf Williams Syndrome

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Is meconium plug syndrome only associated with cystic fibrosis?

Is meconium plug syndrome only associated with cystic fibrosis?

No: Meconium plug syndrome, as opposed to meconium ileus, is not necessarily associated with cf. It can occur with hirschsprung's disease. It is usually self-limited, however, and clears with a contrast enema undertaken to establish the diagnosis. If the baby stools normally after initial evacuation, additional work-up is usually not necessary. ...Read more

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Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more


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What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait

What are the chances my child will be born with chromosomal abnormalities? I was told my unborn child has echogenic bowels, that i tested higher for the risk of Down syndrome and as a carrier of the cystic fibrosis trait

There : There are several ultrasound findings that can suggest down sysndrome, and echogenic bowel is one of them. There could be other explanations for that finding, though. It sound like you will need some testing to find out what's going on. The two tests used most commonly are amniocentesis and chorionic villous sampling. Each has its own risks and benefits, so you should discuss them with your obstetrician. I would suggest that you do this sooner than later, and regardless of whether the outcome might lead you to terminate the pregnancy. ...Read more

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My son has hirschsprung disease. My wife tested neg. for cystic fibrosis. Are the two related? Should I be tested for CF? I'm 32 w/no issues.

No, not related: Hirschsprung's disease is a congenital condition that leads to absence or lower numbers of nerve cells in the large intestine that are responsible for allowing the colon muscles to function, leading to constipation or inability to pass stool. Cystic fibrosis is an inherited recessive disorder of salt transport leading to thickened secretions. If your wife is negative, no need for you to be tested ...Read more

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What screening process is used for cystic fibrosis cf?

Varies by state: In the us the process varies in each state - usually it involves an initial blood work and some genetic blood analysis. ...Read more

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What kind of condition is cystic fibrosis (c.F.)?

Progressive disease: Cystic fibrosis (CF) is a progressive, lifelong condition in which the glands that produce mucus, sweat, and intestinal secretions do not function properly. Thick mucus accumulates in the lungs, leading to breathing difficulty and infection. CF also impairs digestion, and affected males are usually infertile. ...Read more

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Can men with atypical cystic fibrosis have children? I have 2 children, I have no symptoms of CF and I am 32 years old. Never tested for CF.

Can men with atypical cystic fibrosis have children? I have 2 children, I have no symptoms of CF and I am 32 years old. Never tested for CF.

Sometimes: Actually, there are several different reasons that men with classic cystic fibrosis tend to be infertile; CFTR is part of the molecular machinery of spermatogenesis. It depends on your mutation. I'm wondering what you're worried about. Best wishes. ...Read more

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Newborn boy has a severe mutation delf508 and a 5-t gt12. Was told that he might or might not develop mild cystic fibrosis. How does mild CF manifest?

Varies: Mild CF can vary from recurrent sinus infections, recurrent pneumonia, pancreatitis, fertility problems. One may have no evidence of CF until adulthood. Sometimes the first sign is recurrent pancreatitis in the second or third decade of life. Usually growth is not impaired. ...Read more

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My wife & son passed california newborn screening for CF, does that mean odds are low for typical cystic fibrosis or mild form?

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

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My son & wife tested neg for Cystic Fibrosis through screening test, not sweat test. However my son has hirschsprung disease. Should I test for CF - or it's high unlikely I have it? I'm 32. Feel fine

I wouldn't: There is no relationship between Hirschprung disease and CF. If you wand to know if you are an asymptomatic carrier of CF, the tests are available. However, you don't get to age 30 without symptoms when you have the disease and your fertility would also be diminished.If your wife is not a carrier, you can not produce babies with CF. ...Read more

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My 3 1/2 yr. Old with cystic fibrosis has cold/ allergy symptoms...But unusually grumpy and purple color under eyes...Allergies or CF exacerbation?

My 3 1/2 yr. Old with cystic fibrosis has cold/ allergy symptoms...But unusually grumpy and purple color under eyes...Allergies or CF exacerbation?

Pls see answer: There is an overlap between the symptoms of allergy and cf. Allergic symptoms tend to be associated with a particular exposure that triggers an allergic response. The discoloration under the eyes may be caused by allergies, infection, lack of sleep, iron deficiency. If the area around the eye is red and swollen, it is best to check with your doctor. Fever > 101 is not usual for an allergic resp, . ...Read more

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Dr. William Walsh
980 doctors shared insights

Cystic Fibrosis (Definition)

Cystic fibrosis is a genetic disorder of the lungs and digestive tract. It causes recurrent lung infections and inhibits growth in patients. Average life expectancy of patients with cystic fibrosis ...Read more