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What Is The Effect Of Cystic Fibrosis?
Question: Has research shown it is possible for someone to have Cystic Fibrosis with absolutely zero symptoms throughout her life (age 41) and is still in perfect health? A pre-natal carrier screen returned 2 mutations (R117H and c.350G>A). How is this anticipated to affect future health....if at all?
Brief Answer:
Please go through the following discussion
Detailed Answer:
Hi
Thanks for your query.
This is in-deed an interesting question.
Cystic fibrosis is usually diagnosed before three years of age. A late diagnosis - in adolescence or adulthood - may indicate that the person has a mild form of the disease or their symptoms are atypical. The genetic defect that leads to CF in adult cases is often a less common variety. Approximately 6% of the diagnoses of CF are made in adults and the number of late diagnoses is increasing. People in this category are generally healthy before the diagnosis. A sudden, surprising respiratory illness or an investigation into problems with fertility might lead to the diagnosis. Other people in this group may be diagnosed as a result of their children having CF.
After the diagnosis, some people find it difficult to do all that is recommended or expected. CF is a disease that needs to be paid attention to. But yes if you have the carrier genes you may have symptoms at any point of time or you may remain asymptomatic but one of your children may show symptoms right from his or her birth. It is hard to go unexpectedly from little or no treatments to a program of daily medications and therapy. Finding time for these new treatments is challenging, especially for working and parenting adults.
If you have further queries you can write back to me.
Thanking you.
Regards,
Dr Arnab Maji
MBBS (Hons), MD (Chest Med)
Consultant Pulmonologist
Please go through the following discussion
Detailed Answer:
Hi
Thanks for your query.
This is in-deed an interesting question.
Cystic fibrosis is usually diagnosed before three years of age. A late diagnosis - in adolescence or adulthood - may indicate that the person has a mild form of the disease or their symptoms are atypical. The genetic defect that leads to CF in adult cases is often a less common variety. Approximately 6% of the diagnoses of CF are made in adults and the number of late diagnoses is increasing. People in this category are generally healthy before the diagnosis. A sudden, surprising respiratory illness or an investigation into problems with fertility might lead to the diagnosis. Other people in this group may be diagnosed as a result of their children having CF.
After the diagnosis, some people find it difficult to do all that is recommended or expected. CF is a disease that needs to be paid attention to. But yes if you have the carrier genes you may have symptoms at any point of time or you may remain asymptomatic but one of your children may show symptoms right from his or her birth. It is hard to go unexpectedly from little or no treatments to a program of daily medications and therapy. Finding time for these new treatments is challenging, especially for working and parenting adults.
If you have further queries you can write back to me.
Thanking you.
Regards,
Dr Arnab Maji
MBBS (Hons), MD (Chest Med)
Consultant Pulmonologist
Above answer was peer-reviewed by :
Dr. Raju A.T
Answered by
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