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Doctor insights on: Cystic Fibrosis One Exon

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Is cystic fibrosis autosomal dominant in genetics?

Is cystic fibrosis autosomal dominant in genetics?

Recessive: Both parents must carry the gene with a 25% chance (1:4) with each conception that the baby will have cystic fibrosis. ...Read more

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Dr. William Walsh
992 doctors shared insights

Cystic Fibrosis (Definition)

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


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What are the causes of cystic fibrosis in more than one grandchild?

What are the causes of cystic fibrosis in more than one grandchild?

Gene defect: Parents of one CF patient have an equal (25%)chance of producing another with every conception. Although there is a possibility that an unaffected child would be born, you roll the dice every time. ...Read more

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Living with Cystic Fibrosis (Checklist)

Educate yourself using trusted sources, such as your doctors, the Internet, or the library
once
Have your doctor coordinate care through a designated CF Treatment Center
once
Plan for frequent checkups (every 3 months, but sooner if a problem arises)
4x year
Talk to your doctor about the influenza vaccine and other recommended vaccinations
2x year
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Whats an adenomatoid nodule with cystic degeneration?

Cyst formation: Adenomatoid nodule - fibrotic stroma and glands ( adenoma). When adenomatoid nodule exists for a while and compresses blood vessels and surrounding tissue, hemorrhages and necrosis possible, and finally, in this place tissue degeneration with cyst formation. Example, leiomyomas of uterus sometimes reveal cystic degeration. ...Read more

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What is cystic fibrosis exactly?

What is cystic fibrosis exactly?

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

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Caring for an Elderly Loved One (Checklist)

Check your loved one's balance
once
Remove obstructions that could cause falls
once
Organize medications
monthly
Add railings for support
once
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Are idiopathic pulmonary fibrosis cystic fibrosis the same?

Are idiopathic pulmonary fibrosis cystic fibrosis the same?

No: Two completely different diseases. CF is an inherited disorder leading to failure to clear mucus and repeated infections. It does end up with fibrosis in the lungs. Idiopathic fibrosis is a disease of unknown cause where scar tissue replaces normal lung and eventually causes respiratory failure. ...Read more

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Is cystic fibrosis a dominant or recessive trait?

Is cystic fibrosis a dominant or recessive trait?

Recessive: One needs two defective copies of the cystic fibrosis to develop the disease. ...Read more

Dr. Jeffrey Unger Dr. Unger
<b>2</b> doctors agreed:
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Living with Type 1 Diabetes (Checklist)

Check your blood glucose 2 hours before and 2 hours after eating
once
Check with your doctor if your post-meal glucose is lower than your pre-meal glucose, as you may have hypoglycemia
once
Consider using a continuous sensor if you do not feel hypoglycemia symptoms
once
Use insulin pumps, as they can minimize your risk of hypoglycemia
once
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Cystic fibrosis disease is carried by a recessive allele on which gene?

CFTR: Cystic fibrosis is caused by a mutation of the cftr gene, or cystic fibrosis transmembrane regulator, on chromosome 7. Cftr works as a chloride ion channel which helps to regulate chloride and sodium movement in your lungs and sweat ducts. ...Read more

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Cystic fibrosis, is it sexlinked?

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

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Why is CF called "cystic" and "fibrosis"?

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 more

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How to tell if I have cystic fibrosis?

Sweat test: The gold standard to diagnose cystic fibrosis is the sweat test, which measures the amount of chloride in the sweat. The test takes a few minutes to an hour and is painless. It is done in specialized clinics and hospitals. ...Read more

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What are the chances of inheriting cystic fibrosis if one parent has trait?

What are the chances of inheriting cystic fibrosis if one parent has trait?

Depends: This depends on the profile of the other parent. Their are dozens of mutations that can lead to CF, although most are the delta 509. Both parents must carry a CF related gene for an offspring to get it, and if so the risk is 25%. Carrier testing is available through specialty labs.If only one has trait ,zero. ...Read more

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Which is late respiratory complication in cystic fibrosis ?

Complication: Late respiratory complications of CF range from respiratory distress with declining oxygen saturation to pneumothorax. ...Read more

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Was diagnosed with cystic fibrosis. What is it like living with cystic fibrosis?

Was diagnosed with cystic fibrosis. What is it like living with cystic fibrosis?

It depends: It really depends on the severity of the disease. Not all patients experience the same symptoms and the same course. ...Read more

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Is good to work outside while having cystic fibrosis?

Is good to work outside while having cystic fibrosis?

CF and environment: Depending on the severity of your cf, leading an active healthy lifestyle outside is not a fantasy. Common sense will dictate avoidance germs by simple hand hygiene (wash, wipe, alcohol base hand gels). Knowing your CF treatment plan as per your pulmonologist/specialist is important for slowing down the progression/maintaining a more resilient defense against bacterial/chronic lung infection. ...Read more

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Is CTFR gene the same as being aCystic Fibrosis Carrier?

Is CTFR gene the same as being aCystic Fibrosis Carrier?

Not necessarily: The CFTR gene, or mutations in this gene, are what are often being tested for in patients suspected of being cystic fibrosis carriers or suffering from the disease itself. If you are a carrier then you will have one copy of your CFTR gene with an abnormality. ...Read more

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What is cystic fibrosis?

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

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Is pulmonary fibrosis the same as cystic fibrosis?

Is pulmonary fibrosis the same as cystic fibrosis?

No: Cystic fibrosis is a genetic disease causing abnormal functioning of the mucus glands in the lung and leading to recurrent infections. Pulmonary fibrosis is a disease of progressive scarring causing loss of alveolar units that can have a variety of causes. ...Read more

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Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more

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What is risk of cystic fibrosis?

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

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How to tell if I have cystic fibrosis? Is it deadly?

Testing; can be: Cystic fibrosis (CF) can be diagnosed with appropriate examination by a doctor and a sweat chloride testing. No single symptom is unique to that disease. CF can be deadly, at any age, young or old. Severity varies greatly, and lung (respiratory) failure is the most common cause of death from cf. ...Read more

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What does it mean if I am a carrier cystic fibrosis?

What does it mean if I am a carrier cystic fibrosis?

One gene bad: The cftr gene codes for (has information for your body about) a sodium-chloride transporter on your cell membranes. If you have two bad copies you have cf, if you have one, you are a carrier. As many as 1 in 25 caucasian adults in the us has this mutation. If you are planning on having children, talk to your spouse about genetic counseling, unless your spouse is of asian or african descent. ...Read more

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If only one parent is a carrier of cystic fibrosis, how likely is the child to be a carrier?

If only one parent is a carrier of cystic fibrosis, how likely is the child to be a carrier?

50%: A carrier parent has 2 possible genes to pass along.There is a fifty % chance a child could get either the normal or CF gene. If they did, they would be a carrier, like the parent. ...Read more

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What are the chances of inheriting cystic fibrosis if one parent has trait?

Depends: This depends on the profile of the other parent. Their are dozens of mutations that can lead to CF, although most are the delta 509. Both parents must carry a CF related gene for an offspring to get it, and if so the risk is 25%. Carrier testing is available through specialty labs.If only one has trait ,zero. ...Read more

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What are the chances of inheriting cystic fibrosis if one's parent has the trait?

Depends on Both: This depends on whether both parents carry the trait. If only one parent is a carrier of the gene, then there is no chance of inheriting cystic fibrosis. However, if both parents carry the CF gene, then there is a 25% chance their child will inherit cystic fibrosis. ...Read more

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What are the causes of cystic fibrosis in more than one grandchild?

Gene defect: Parents of one CF patient have an equal (25%)chance of producing another with every conception. Although there is a possibility that an unaffected child would be born, you roll the dice every time. ...Read more

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Cystic fibrosis is a disorder of genes but which ones?

Cystic fibrosis is a disorder of genes but which ones?

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

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If you mother is a carrier of cystic fibrosis is it posibble for one of her children to get it in there audlt years. ?

If you mother is a carrier of cystic fibrosis is it posibble for one of her children to get it in there audlt years. ?

Not going to happen: The predominant forms of CF (70%) come from inheriting a delta f508 mutation from both parents. If the biological dad does not carry a CF gene, delta f508 or any of the dozens of similar minor mutations, the kid cannot suddenly develop CF. Carrier detection is available to test any potential parent, and many suggest people know the status of both if one is a known carrier. ...Read more

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Is their there significant risk of cancer or disease with asymptomatic Cystic Fibrosis Carrier? Should one be worried?

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 more

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My husband 82 yr old grandpa was diagnosis w cystic fibrosis. Should i get my kids tested one is 2 1/2 and 5 1/2 or never had any genetic tests done?

Doubt your Dx: There is a rare but different disease called fibrocystic disease of the lung.It has nothing at all to do with cystic fibrosis, which is evident in most kids in their first year.For one to live to 82 with the disease would likely be a world record. ...Read more

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