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Bartter/Gitelman syndrome

S

soundasacrystal

Messages
73
Has anyone been diagnosed with one of these?

I have struggled with low energy, low blood pressure, and polyurea pretty much my whole life. Now I'm starting to think that what I have has a name and a treatment (besides cfs).

What makes me think I might have one of those syndromes is that I have low potassium and low blood pressure. Usually low potassium will cause high blood pressure unless you have either Bartter syndrome or Gitelman syndrome.

Any thoughts?
 
M

mhrps

Messages
60
I think there is a simple test that could give you a hint. You need to check ph of your blood. In case of Bartter/Gitelman syndrome it should be alkalic I guess.
 
tango

tango

Senior Member
Messages
165
Location
New Zealand
Does anyone know anything more about Gitelman? I ran my genes and I have 3 homozygous mutations and 2 heterozygous in SLC12A3 and some of the symptoms but I don't know which SNP is the relevant SNP. Or are they all relevant? Any help would be appreciated
 
Murph

Murph

:)
Messages
1,799
As I understand these diseases, the kidney is supposed to sort out electrolytes from blood and keep them in circulation, but it instead dumps them. These are pretty rare diseases caused by genetic mutations in the renal tube.

But. If one of the issues in ME is issues with barrier tissues (e.g. gut lining, cell wall, blood vessel wall) then we could, theoretically have non-genetic issues in our renal tube.

There exist in the literature cases described as "acquired" Bartter and Gitelman syndrome, often following use of certain prescription drugs.

I have read a few things that suggest that in ME, barrier tissues might be failing (possibly due to availability of metabolites we need to make barrier tissues properly?). This could maybe explain some observations, including failure to move calcium in and out of cells, red blood cell defomrability, leaky gut?

I definitely have some of the symptoms of Gitelman. I have polyuria and intense polydipsia, and I crave salt like crazy. I take potassium everyday and eat a lot of bananas. But given how rare the classic genetic mutation is I expect something non-genetic is a more probable explanation.
 
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Seven7

Seven7

Seven
Messages
3,444
Location
USA
Murph said:
Are they reputable?
Click to expand...
I don’t know much but somebody posted and I went ahead and did it. I have done the 23&ME but did not find it useful becuase everytime I wnat to know a Gene, it was not covered at all. I am interesting on EDS, familial dysautonomia genes and any connective disorders. Why I am doing this one too.
 
tango

tango

Senior Member
Messages
165
Location
New Zealand
Seven7

Seven7

Seven
Messages
3,444
Location
USA
tango said:
I sometimes wonder if looking at genetics
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I agree, the reason why I am perusing is becuase I have suspect due to family history (mom and her family) I suspect familial dysautonomia or EDS or some connective tissue disorder.
 
tango

tango

Senior Member
Messages
165
Location
New Zealand
Murph said:
Are they reputable?
Click to expand...

I got this from a group I belong to. They seem reputable and they answered my email enquiry promptly.
"fyi, Dante Labs Offers €169 ($199 USD) Whole Genome Sequencing on "Black Friday & Cyber Monday." https://us.dantelabs.com/
I already had my genome completed by Dante, primarily for research into another rare genetic disorder that I suffer from. And I am now working with a geneticist to analyze. But I am also eager to explore it for any insight into my circadian sleep disorder and other severe health issues. Dante has made a special commitment to working with people with rare genetic disorders. They have also offered to run a custom report for people who suspect a rare disorder.

The 30x whole genome is the current standard for whole genomes and plenty accurate for research. but just be aware that for clinical diagnosis, you will also need to work with a geneticist to further analyze the results. And if you find any likely pathogenic variants, you would need to confirm by running a targeted test for that variant at a higher 100x.

It is compatible with Promethease and many other online analysis tools."

I am going to go ahead and purchase it just in case. I definitely have thiamine transporter issues and my blood pressure drops dangerously low if I don't take thiamine regularly. Just in case there is something I need to know or get curious about in the future I will do the test. 23andme has been helpful but often doesn't have the right SNPs for me to check out my various theories.
 
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