Tammy RE: Sweat test results in regards to 3849-10kbc->t

anna

New member
If I may ask Tammy... What was you sweat test results? Talked to the Dr. today and my hubbies was 49. They are still doing the genitic test... just not till Sept. They don't really think he has CF now.. but want to do the gentic test anyway. We really feel that he does... and can't wait till we do the genitic test...

Anyway I think I am rambeling!
 

anonymous

New member
Hi Anna,

I think it was in the low 60's. It was so long ago and I have no idea where the paper is that had the number on it.

Here's something from pubmed:

Rev Hosp Clin Fac Med Sao Paulo. 2003 Sep-Oct;58(5):260-2. Epub 2003 Nov 11. Related Articles, Links


Cystic fibrosis with normal sweat chloride concentration: case report.

Silva Filho LV, Bussamra MH, Nakaie CM, Adde FV, Rodrigues JC, Raskin S, Rozov T.

Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb C->T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels.

PMID: 14666323 [PubMed - in process]


Tammy 43wcf<i>Text</i>
 
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