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Old 12-29-2003, 09:58 PM   #1
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mome22 HB User
question about test results

I have a question about some test results of my sons. First off, he is not dx with CF. He has asthma and IgG subclass deficiency. He has been tested for CF twice with the sweat test. Both have come back negative. But I just got copies of his labs and this is what it says. Top portion has negative circled but bottom portion says " This patient is positive for one copy of the 5T allele in intron 8 of the CFTR gene" Any ideas what that means? He has a history of pneumonia, he had it 5 times in 6 a month period last year. With an asthma exacerbation 2 months after last pneumonia. He has alot of medical history. When he had pneumonia his pulmonologist had us doing clapping on his back and stuff. He has his neb 3 times a day when healthy. If anyone has any ideas or answers I would appreciate it.

Thanks
Melissa

 
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Old 02-12-2004, 08:00 PM   #2
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beijingcfmom39 HB User
Re: question about test results

Melissa,

I'm no doctor, but I've read that there is a correlation of some type between a mutation on one of the CF genes and asthma. I think what the note is saying is that he has a mutation to one of his cf genes. However, since he does not have cf, his other gene is normal and dominant. I'm not sure what the particular mutation noted means, but you should ask your doctor to see what part this may play in his asthma, if any.

 
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Old 02-13-2004, 09:54 AM   #3
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Donna Green HB User
Re: question about test results

Melissa,
I am just researching CF as a possible cause of our 15 year old daughter's sinus problems. She had a sweat test result of 59 and we will go for more testing next Friday. In my research about gray sodium results I came accross 2 articles you might find helpful. The first article uses the second in it's explanation and references your particular IVs8-5T allelle. Another article I read talked about the importance of testing for all mutations of the CFTR-over 1000, because gray sweat tests may more likely include the less common mutations. I will list these 3 web sites but if you have any problems accessing, please write back for assistance. Good luck.
Donna Green

Groman study [url]http://www.ncbi.nlm.nig.got/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_u ids=12[/url] The web address continues after the fcgi? into the cmd without spacing, I just couldn't get it on 1 line. I found this study on some list it is titled "Variant cystic fibrosis phonetypes in the absence of CFTR mutations" and was published in the NE Journal of Medicine Aug 8, 2002

This article talks about "nonclassic CF"
[url]http://www.medical-journals.com/real28.htm[/url] it mentions the 5T allele and cites Groman's study.

This article talks about the importance of testing for all mutations:
[url]http://forums.cysticfibrosis.com/messageview.cfm?catid+6&threadid=567[/url]

Quote:
Originally Posted by mome22
I have a question about some test results of my sons. First off, he is not dx with CF. He has asthma and IgG subclass deficiency. He has been tested for CF twice with the sweat test. Both have come back negative. But I just got copies of his labs and this is what it says. Top portion has negative circled but bottom portion says " This patient is positive for one copy of the 5T allele in intron 8 of the CFTR gene" Any ideas what that means? He has a history of pneumonia, he had it 5 times in 6 a month period last year. With an asthma exacerbation 2 months after last pneumonia. He has alot of medical history. When he had pneumonia his pulmonologist had us doing clapping on his back and stuff. He has his neb 3 times a day when healthy. If anyone has any ideas or answers I would appreciate it.

Thanks
Melissa

 
Old 09-12-2008, 07:30 PM   #4
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rush01 HB User
Re: question about test results

Everything listed below sounds just like my son. He is 9 we have had 2 neg. CF test and are waiting on the DNA results. Before that he had 4 neg. TB test. He has a low IGG subclass 4 deficiency and asthma with recurrent sinus infections, pneumonias, really cronic issues with his sinus area and lungs. We just got a PICC line this week starting home IV antibotics to try and help. THey have mentioned IV IGG. We are looking for any diginosis that we can find that may match these symptoms. If anyone has any ideas please let me know.
Thanks


Quote:
Originally Posted by mome22 View Post
I have a question about some test results of my sons. First off, he is not dx with CF. He has asthma and IgG subclass deficiency. He has been tested for CF twice with the sweat test. Both have come back negative. But I just got copies of his labs and this is what it says. Top portion has negative circled but bottom portion says " This patient is positive for one copy of the 5T allele in intron 8 of the CFTR gene" Any ideas what that means? He has a history of pneumonia, he had it 5 times in 6 a month period last year. With an asthma exacerbation 2 months after last pneumonia. He has alot of medical history. When he had pneumonia his pulmonologist had us doing clapping on his back and stuff. He has his neb 3 times a day when healthy. If anyone has any ideas or answers I would appreciate it.

Thanks
Melissa

 
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