Top
30
Doctor insights on: Cystic Fibrosis Gene Carrier Symptoms

Share

Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


2

2
Can a carrier of the Cystic Fibrosis gene ever be symptomatic?

Can a carrier of the Cystic Fibrosis gene ever be symptomatic?

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

3

3
What are the chances of passing on the Cystic Fibrosis gene if only one parent is a CARRIER? Other parent not a carrier.

What are the chances of passing on the Cystic Fibrosis gene if only one parent is a CARRIER? Other parent not a carrier.

50-50: One half of offspring will be carriers and one half will not be carriers. No offspring will be afflicted. Thanks for trusting HealthTap! ...Read more

7

7
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

8

8
Say I have the gene of cystic fibrosis, can my child have it?

Say I have the gene of cystic fibrosis, can my child have it?

CFF: Both the mother and father have to be carriers. It is a genetic disease and genetic counseling is available. The CF foundation also has information about CF transmission. ...Read more

9

9
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

10

10
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

11

11
Can you explain if it's possible to get cystic fibrosis without carrying the genes for it?

Can you explain if it's possible to get cystic fibrosis without carrying the genes for it?

No: Cystic fibrosis (CF) is a genetically inherited disease, so CF or cf-related disease (atypical cf, crms) rely on having at least 1 inherited gene. The other part of CF diagnosis is having an elevated sweat chloride. It is possible to have a positive sweat chloride due to other circumstances (thyroid imbalance, trisomy 21), but without CF genetics, there cannot be a diagnosis of cf. ...Read more

12

12
Me and my partner both carry cystic fibrosis genes. How do we be sure to have a child without cystic fibrosis?

Me and my partner both carry cystic fibrosis genes. How do we be sure to have a child without cystic fibrosis?

Prenatal testing: Testing of your fetus and or placenta is available. However, there us a risk of pregnancy loss associated with these procedures. Talk with our obstetrician and genetic counselor about risks and the best procedure for your situation. ...Read more

13

13
How does gene therapy help cystic fibrosis?

Not available yet: Gene therapy is not available for cystic fibrosis (CF) yet (2012). Having said that, the underlying concept is that since CF is a genetic disease (meaning there is a defect in a gene), by repairing that defect through gene therapy, one can, hopefully, cure the disease. ...Read more

14

14
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

15

15
How can gene therapy help a cystic fibrosis sufferer?

How can gene therapy help a cystic fibrosis sufferer?

Not available: There is currently no gene therapy available for cystic fibrosis (cf). Since CF is a genetic disease, there is hope that, one day, gene therapy may provide a cure for this disease by, essentially, correcting the underlying genetic defect. ...Read more

16

16
How can gene therapy help a cystic fibrosis sufferer?

How can gene therapy help a cystic fibrosis sufferer?

Replace gene: In cystic fibrosis the underlying problem is that a single gene is not functioning. Gene therapy would allow that gene to be replaced with a normal functional gene. In theory, this would offer a cure. In practice, such a cure has proven elusive however work continues. ...Read more

18

18
What is possible cures for cystic fibrosis, how would gene therapy work?

What is possible cures for cystic fibrosis, how would gene therapy work?

Replace gene: In cystic fibrosis the underlying problem is that a single gene is not functioning. Gene therapy would allow that gene to be replaced with a normal functional gene. In theory, this would offer a cure. In practice, such a cure has proven elusive however work continues. ...Read more

19

19
Is there gene therapy for cystic fibrosis and health centrefor this disease in the us?

Is there gene therapy for cystic fibrosis and health centrefor this disease in the us?

No and yes: Safe effective gene therapy for CF is a dream that we have yet to realize, but there are many excellent CF centers in the us. The CF foundation is an excellent source of information on these centers. The treatments for CF are improving, and expanding constantly. The life expectancy for patients with CF has steadily increased but is still limited by pulmonary disease. ...Read more

20

20
There's is no cure for cystic fibrosis so what could gene therapy do?

There's is no cure for cystic fibrosis so what could gene therapy do?

Cure: Depending on the type of gene therapy, gene therapy can be a cure, if the underlying genetic problem is corrected. Of course, any damage done to the body by the disease up to that point may, or may not be, reversible. ...Read more

21

21
How does gene therapy help a cystic fibrosis patient?

How does gene therapy help a cystic fibrosis patient?

So far not at all: Trying to replace the faulty gene has been a failure so far. The new science of epigenetics tells us that our genes (even "bad" ones) are changed by diet and life style. I havegiven children with CF vitamin supplements. They help greatly but there is no cure. Find a physician who uses nutrient treatment. ...Read more

22

22
There's is no cure for cystic fibrosis but what does gene therapy do?

There's is no cure for cystic fibrosis but what does gene therapy do?

Vertex 770 is new: There are new approaches to potentiate and correct the genetic deffect in cf, one of which is vetex 770 which could potentiate to increase function of the chloride channels. Actual gene correction is years away.
Shahzeidi, md. ...Read more

23

23
What affect does gene therapy for people with cystic fibrosis have on the evolution of human and/or other species?

What affect does gene therapy for people with cystic fibrosis have on the evolution of human and/or other species?

Same as...: ...Any other lifesaving interventions: it increases, by a tiny amount, the probability that more lifesaving interventions will be needed in the next generation. Considering that appendicitis and strep throat are among illnesses that killed people before such interventions were possible, CF is not a major contributor to evolutionary pressure. ...Read more

24

24
Can you test positive for 2 mutations of cystic fibrosis on one copy of a gene? I am 43 and have 2 mutations and they are testing my mother.

Cystic Fibrosis: It is possible to have multiple mutations for cystic fibrosis on one copy of a gene. There are more than 1700 mutations of the cystic fibrosis gene. More about cystic fibrosis genetics via the Cystic Fibrosis Foundation:
https://www. Cff. Org/What-is-CF/CF-Genetics/ ...Read more

25

25
Can u have atypical cystic fibrosis if u have asthma, severe pancreas involvement & CFTR m470v? Report indicates a 2nd gene may be rare or unknown

Can u have atypical cystic fibrosis if u have asthma, severe pancreas involvement & CFTR m470v? Report indicates a 2nd gene may be rare or unknown

Maybe: Surprisingly, M470V is a common variation. Studies have shown 50% of the population has this mutation and actually less likely to cause CF. Most individuals with CF and carry M470V have some other hidden etiology that is the cause, rather than M470V. Genetic expression may be variable and so will be the clinical manifestations. Speak with your doc and a geneticist for specific information. ...Read more

27

27
How should gene therapy treat these two diseases. Cystic fibrosis and parkinson disease?

Correct gene defects: Cystic fibrosis is a genetic disorder where a dysfunctional cftr protein causes problems in various organ systems. By restoring the function of this protein in the involved body systems, it is hoped that normal functionality will be restored & the harmful effects of CF disease will improve. There are still several obstacles before it can be successfully implemented in CF patients everywhere. ...Read more

28

28
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

29

29
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

Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their dna sequence ...Read more


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