borderline sweat test

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tjg3303
New Member


Date Joined Nov 2008
Total Posts : 2
   Posted 11/10/2008 1:09 PM (GMT -7)   
         I am a concerned father and also new to this site.  Although, reading through this site has led me to realize that I am not alone.  My son had an abnormal screening and 1 mutation found on the state genetic test(not any of the common mutations).  We then had the sweat test done and found out his chloride level was 33.  We are waiting on the results of the full genetic pannel.  He is 6 months old.  I guess what would really help me is to know how common it is to have this borderline sweat result and be a carrier, since we know that he is, at least, a carrier.  Is there anyone out there who can tell me that they know of a swaet level of 33 being a sigh on nothing...lol..I Hope

Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 11/13/2008 2:42 PM (GMT -7)   
Hi there,

Here is what I know about the sweat test results:-
under 40 is normal, 40-60 is a borderline/grey area, over 60 is almost certain.
As far as I am aware a test result of 33 is definately a normal level and would not indicate CF.

For full CF, a person would need 1/2 gene from each parent. Each parent can either pass on half a gene with no faults, or half a gene with faults. If they have just 1 half of the faulty gene from one parent but a normal gene from the other parent, then this would make the offspring a carrier of CF. The CF fault cannot be activated with only half a gene, you need both halves to make a full one.

But then, this is where it gets complicated. Over the years the CF gene has mutated and changed. So far they can only test for a handful of the hundreds of different mutations of the gene. Even a full genetic panel can only test for a percentage of the mutations. I think the common mutations panel check for the top 20 most common. So, it's possible doing a genetics panel, might not tell you anything.

But, with a sweat test result of 33, and only one of the common genes, your son maybe a carrier, but I doubt he'd have full CF, and therefore shouldn't experiance any more problems with his health than someone who doesn't have any CF genes at all.

Hope this helps,
I wish you well with the rest of the testing, and hope your son grows into a healthy happy person:)


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Post Edited (Darkies Gem) : 11/13/2008 2:45:39 PM (GMT-7)


tjg3303
New Member


Date Joined Nov 2008
Total Posts : 2
   Posted 11/19/2008 4:34 PM (GMT -7)   

  I appreciate your reply.  I know a little more than the average person about CF because I have been a Repiratory Therapist for 3 years now.  I work at a university hospital and I see the range of patient's symptoms.  What I don't see, is the diagnostic part of our patient's treatment.  Our doctor told us that a chloride level of 33 in a baby his age was suspect, even though the range is 40-60.  Sure enough, the full genetic panel came back and found some kind of other mutation.  We were told that it was the 5T allele, or something like that, and that it was associated with mild cases of CF.  As of right now, He shows no symptoms.  He is gaining weight well and eats well.  The only thing worth noting is that he has frequent gas and sometimes only has one bowel movement a day.

        So he has a mutation combination of 5T and one called "1717 1G-A".  There is still a small chance that both of these mutation were given to him by only one parent and that he is only a carrier.  Being the nervous father that I am, I would really like to know what symptoms are commonly assosiated with these mutations.  Information about genetic mutations and their symptoms is hard to find.  I understand that it is hard to predict and I don't expect concrete answers.  But an idea would be nice.  Any help would be appreciated and any places that I could find good informaton would be helpful.    


Gemsi
Forum Moderator


Date Joined Feb 2007
Total Posts : 1050
   Posted 11/23/2008 10:24 AM (GMT -7)   
The only website I can think of for help, is the CF Trust website- www.cftrust.org.uk. They have a large number of members on there, who may have the same mutations, and can provide more info with regards to symptoms.

I've heard of some people not having the enzyme problems associated with CF, but not without the chest problems. However, some kids don't even get a chest infection until they're 15/16, no matter what the mutation. Meaning they don't have many chest problems, as there aren't any infections to cause lung damage. My little brother was one of these kids. I wasn't. Both of us have 2 copies of DF508, and there is a lot of difference between us healthwise.

The different mutations cause the CFTR protein to act differently in different parts of the body. I have no clue what those different parts are in the mutations your son has.

 

Sorry I can't be anymore help

Gem


Moderator of the Cystic Fibrosis Forums
Diagnosed with: Cystic Fibrosis, Asthma, ABPA, Clinical Depression, Mild Liver Cirrohsis, Mild Osteopenia, Erythema Nodosum. Waiting for final diagnosis on Muscular Dystrophy type symptoms.
Medication: Creon 10,000, Flucloxacillin, Vitamins A,D+E, Serevent, Salbutamol, Paracetamol, Ondansetron, Nefopam, Ursodeoxycholic Acid, Saline neb/PEP system, Mirtazapine,slow-sodium, Skandishake and Fresubin.
Had a Port-a-cath fitted on chest wall since Nov 05
Help support the forums so we can support you:  http://www.healingwell.com/donate
Sometimes, I feel that I should go and play with the thunder-In The Shadows by The Rasmus


jkt1234
New Member


Date Joined Jan 2011
Total Posts : 1
   Posted 1/28/2011 6:07 AM (GMT -7)   
tjg3303 - are you still around? I am going through something very similar with my son and would like to know how things are with your son.
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