Doctor insights on:
An Individual Heterozygous For Cystic Fibrosis
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
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 moreSee 1 more doctor answer
Depends: The patient should have a fair life-expectancy if he or she is younger than 60 years of age and sees the doctor on regular basis, provided that the patient follows the doctor's recommendation. There are newer treatment for hep c now and with fewer side effects. I also have patients with COPD who have excellent quality of life after they quit smoking and use inhalers as directed. ...Read moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
Chronic illness: There are many components of a chronic disease that are hard to navigate in adolescence. At a time when absolute uniformity is desired, there are medications to take at specific times, there are doctor visits ("Where were you?"), and there are hospitalizations which entirely disrupt social structures. Concerns about infection can also limit social activities. Encourage social interactions. ...Read more
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 moreSee 2 more doctor answers
Statistically, how successful is IVF with the male partner being a Cystic Fibrosis carrier? Testicular biopsy shows active spermatogenesis.
Can a carrier (heterozygote) of the wilson disease gene donate part of his/her liver tissue for a living related donor transplant to a patient?
Yes: Wilsons disease is a disease of copper storage. It is genetically linked. Generally speaking people who are heterozygous (are only carriers) can donate their part of thier livers. People who are heterozygous are carriers and don't have wilson's disease themselves. ...Read moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
Cystic fibrosis is a risk factor for:: Aspergillosis, Brain abscess, Bronchiectasis, Collapsed lung, Hypertriglyceridemia, Pulmonary Aspergillosis, Sinusitis, Mucocele, Sputum, Phlegm, Rectal prolapse, Acute sinusitis, Vitamin A deficiency, Vitamin K deficiency, Vitamin E deficiency, Vitamin D deficiency. ...Read more
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
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
Depends on Lung Fx: The level of physical activity for a child with CF is an individual choice that should be made in consultation with the treating physician. However, there has been some interesting research done in australia, which suggests Hypertonic Saline (e.g., salty air) inhalation in CF patients was beneficial in maintaining lung function. Why? A doctor noticed surfers with CF tend to have better outcomes! ...Read moreSee 1 more doctor answer
What happens when a male with an x linked recessive genetic disorder has children with a female who does not carry the disease?
No disease, but...: The scenario you describe would result in a male infant being totally normal, while a female infant would be a carrier that would most likely be unaffected, given that the mutation is recessive. Depending on the actual disease, it is theoretically possible for the female infant to have mild symptoms, since one x chromosome in each cell gets randomly shut down (lyonization). ...Read more
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