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Doctor insights on: Cystic Fibrosis Mutation

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Dr. Judy Orton Dr. Orton
10 doctors agreed:
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Is cystic fibrosis autosomal dominant in genetics?

Dr. Judy Orton Dr. Orton
10 doctors agreed:
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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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...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

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Is pulmonary fibrosis inherited?

Is pulmonary fibrosis inherited?

Pulmonary fibrosis: While I have not seen it commonly there are some families with a history of pulmonary fibrosis. Most of my office patients and previous fibrosis patients I have come across are the only ones in their family with fibrosis. I have one patient in my practice with several family members with progressive and ultimately fatal fibrosis. She has been evaluated at duke university with a genetic workup. ...Read more

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Atypical cystic fibrosis life expectancy?

Atypical cystic fibrosis life expectancy?

Depends: Without a full exam and review of medical records and history of infections secondary to CF would be remiss in trying to become an actuarial. Go see a pulmonologist and discuss the options and likely outcomes. ...Read more

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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 pulmonary fibrosis genetic?

Is pulmonary fibrosis genetic?

Some are: Some families have multiple members who develop pulmonary fibrosis although sporadic cases are more common. The exact genetic inheritance is unknown. ...Read more

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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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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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How can the cystic fibrosis gene affect tuberculosis?

How can the cystic fibrosis gene affect tuberculosis?

Lung Function: The gene itself will not affect tuberculosis. However, if an individual receives 2 recessive genes of the cftr mutation from their parents, they will develop cystic fibrosis (cf). Because CF can lead to repeated bacterial lung infections (among other things), the lungs would already be in a weakened state if exposed to the causative agent of tuberculosis. This might lead to faster disease onset. ...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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Does gene therapy help a cystic fibrosis sufferer?

Does gene therapy help a cystic fibrosis sufferer?

Trials: Clinical trials for genetic therapy are underway. As of this time there is no approved method for gene tx in cf. Kalydeco, (ivacaftor) a new drug, dose reverse the effects of one subtype of cf, but it dose so by aiding the damaged sodium-chloride transporter to get in proper position and function normally. ...Read more

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In what way is cystic fibrosis inherited?

In what way is cystic fibrosis inherited?

CF is recessive: Cystic fibrosis is a disorder passed thru the genes of both parents, silent in the carrier parent & expressed in the affected kid who has inherited an affected gene from both parents.One mutation(delta 509) is the most common but others occur and variations in intensity do occur. I believe you can have carrier testing to see if u carry a gene, then avoid a starting a pregnancy with another carrier. ...Read more

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Does cystic fibrosis cause immune deficiency?

Does cystic fibrosis cause immune deficiency?

No: Cystic fibrosis is not and does not lead to immune deficiency. It causes the pulmonary secretions to be excessively sticky which leads to recurrent/persistent lung and sinus infections. ...Read more

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Conditions that mimic cystic fibrosis?

The list goes on : There are a whole variety of illnesses that can mimic CF from chronic cough , asthma , to immunodeficiency, broncho pulmonary dysphasia celiac disease , Alpha 1-anti trypsin deficiency. ...Read more

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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

Dr. William Walsh
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Cystic Fibrosis (Definition)

A genetic disorder of the lungs and digestive tract that causes repeated lung infections and inhibits ...Read more