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Doctor insights on: Cystic Fibrosis One Exon

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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

Dr. William Walsh
986 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 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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How to tell if I have cystic fibrosis?

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

Hypoglycemia is common with type 1 diabetes
once
Check your blood glucose before and after 2 hours after eating
once
Hypoglycemia is likely if the post meal glucose is lower than premeal
once
If you do not feel hypo symptoms, consider use of a continuous sensor
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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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How to tell if I have cystic fibrosis? Is it deadly?

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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Caring for an Elderly Loved One (Checklist)

Check your loved one's balance
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Remove obstructions that could cause falls
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Organize medications
monthly
Add railings for support
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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?

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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