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Hypophosphatemia and osteoporose, 23Andmetest.

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by Loachi, Oct 24, 2016.

  1. Loachi

    Loachi

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    Hy ,
    As title already says , I (also ) have Hypophosphatemia and osteoporose.
    (Osteoporose -2,7 while I am 49y men... = really not normal )
    ( But probably due to chronic hypophosphatemia.... )
    In short in Hospitals they have tested all the regular ( read simple stuff) like PTH, Vit-D , etc...
    No one could ever find a cause, nor a remedy, nor Phosphate supps, not Heavy Vit-D supps help.
    BUT-!! Next week a have an appointment for an evaluation of the evolution.
    AND - !! I have my 23andme huge big file full of undecriptable crap :)
    SO - !! I went to 23AndMe, Browsing RAW Data.... As I do not have the rsid of the Phex related genes, I just entered PHEX in the Gene search box.
    Looks like it gives a lot of results,... 47 genes... hmmm looks like way to much.
    But anyway I am willing to check them all if necessary .
    PROBLEM - !!! They are on the X chromo.... so just 1 allele , A, C, T or G .. so can't by just looking at them pick out the CT or AG or whatever hetero's. The shit is... 23Andme has a collumn "Version" that says 'C or T' ... so it says what allele's are possible, but looks like they are always just ordered alphabetically.
    So I can see that it should be "C or T" and that I have a T. But I don't know what is the normal Allele or what is the "risk" or the "Polymorfism allele".
    ---
    Whoops, when I search for PHEX on dbSNP it gives me 32740 snp's :) . That's what I call be generous :)
    ---
    So I'll just lookup the 23Andme snp's in dbSNP , BUT can anybody tell me if in dbSNP I can see what is the normal allele, an what is the "risk" allele ?? I see a field
    RefSNP Alleles: C/T (FWD), and a field
    Ancestral Allele: T , but also there, when I check with other snp's for that I have on a repport, it seems that these sbSNP fields are not the one with the answer and also just give the possible allele's but not the "risk" one.
    So if somebody could tell me if I can find the "Risk allele" for a given snp somewhere.
    ( Should be everywhere, otherwise nobody would be able to make any repport ... but you need to know where to look P-) ).
    Of course if somebody already went trough this and just knows the RSxxxx's to check, that would be wonderful.
    Additional sh*t , 23andme , reports a few PHEX ones as ixxxxxxxx instead of rsxxxxxxx.... Yep I already guess it , these are the most import ones :) . And finding the rsxxx correspondig name for a ixxxx , Yep my next biggest problem. Even if I say it myself , I am far from being a stupid one... But these genetic databases, they caused me a few headaches....
     
  2. halcyon

    halcyon Senior Member

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    Have you had your urine phosphate excretion measured?
     
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  3. kangaSue

    kangaSue Senior Member

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    Brisbane, Australia
    The chronic use of acid blocking meds can contribute to having both Hypophosphatemia and Osteoporosis, more so with including the use of the PPI class of acid blockers.
     
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  4. Valentijn

    Valentijn Senior Member

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    @Loachi - To look up if a SNP is problematic, you need to go to dbSNP and read the research which is listed if you hover over the cyan box in the map view. Most SNPs don't have a risky allele, and both are normal.

    Because you only have one X chromosome, homozygous and heterozygous labels don't apply, and you're "hemizygous" for every SNP on it. Basically, having a single problematic allele on your X chromosome would always be equivalent to being homozygous for that allele, in terms of impact.
     
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  5. Loachi

    Loachi

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    Yes, a lot of test have been done , like 24h/pee phosphate excretion , PTH , 1,25Vit-D, FGF23, hyperproteunia, monoclonal band ( that can give false phosphate readings ) ...
    Nor the Endo , nor the Nefro could find a cause.
    Even when I take Phosphorus supplement, the blood reading is below range, but the amount in the 24h pee is still midrange,... so where the Phosphorus disappears :) that's a mistery .
     
  6. Loachi

    Loachi

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    Sorry, but you mentioned this "hover over the cyan box in the map view" in older other post, and I have been trying to find out what you mean, but don't get it.
    So when I start from this place:
    https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs7955866
    Do you mean the Cyan box with the golden star and that says "VarView".??
    Or do yo mean this by Map viewer :
    https://www.ncbi.nlm.nih.gov/projects/mapview/map_search.cgi?taxid=9606&query=rs7955866
    ??
    I really have some trouble getting out of the startingblocks :) . I'll need to find a good HowTO :)
    Thanks.
     
  7. Valentijn

    Valentijn Senior Member

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    Cyan is bright light blue color. So it's a bit further down at the bottom of the "GeneView" section on that page.
     
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  8. Loachi

    Loachi

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    Ooeps , sorry, switched magenta and cyan :) .
    But keep feeling more and more stupid..... Still don't get it...
    So I go to
    https://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=rs7955866
    Scroll down about 1 page to a
    "GeneView" heading written in darkblue in a lightblue horizontal bar.
    Just under the heading I have :
    GeneView via analysis of contig annotation: FGF23 fibroblast growth factor 23
    If I go down to the lower half of the "GeneView" section, I have a table with in the left upper corner a returnig arrow in brigt blue.
    In that table I have 2 bars saying " cgtagttcgagcgaggcgcgttgcgagcggtgcgcy"
    A few lines lower I have a horizontal green bar ..
    3/4 to the right in that table I have a light blue "vertical" bar , I think indicating the location of the gene.
    In that light blue "vertical" bar I have a (for me cyan) little bow with a number. When I hover over that number I get some pubmed references etc....

    And Under that Table I have a new section with heading "Submitter records for this RefSNP Cluster".

    So Big Sorry, but I am lost :)
     
  9. Valentijn

    Valentijn Senior Member

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    You can then click on the pubmed reference numbers and it'll take you to the published paper. Then you read the paper and try to figure out what it says about the SNP - which allele is a problem (if any), how big the effect size is, etc.

    SNPedia has some summaries, but suffers from some inaccuracies and other errors.
     
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  10. barbc56

    barbc56 Senior Member

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    For what it's worth, my urologist always does two 24 hour urine tests, two weeks apart. According to him, urine easily degrades and can be effected by what you eat. Some patients may drink more water than usual during the test, I found myself doing this, which can also change the results.

    But consult with your physician as this may not apply to you and I am not in the medical profession.

    Good luck!
     
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  11. Violeta

    Violeta Senior Member

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    Maybe you have already seen this?

    "
    Hypophosphatemia secondary to phosphorus redistribution is commonly caused by respiratory alkalosis and refeeding of malnourished patients. Acute respiratory alkalosis and metabolic alkalosis decrease serum phosphorus concentration. The reduction is much greater in respiratory alkalosis than in metabolic alkalosis of comparable severity.[18, 19] During respiratory alkalosis, intracellular CO2decreases, causing intracellular pH to rise. This mechanism stimulates the glycolytic pathway, specifically phosphofructokinase, a key rate-limiting enzyme of glycolysis. Production of sugar phosphates is enhanced, which in turn induces intracellular phosphorus entry, thus decreasing serum phosphorus concentration.[5]

    Respiratory alkalosis enhances phosphorus uptake by muscle. The kidney responds by increasing phosphate reabsorption, independent of serum phosphorus concentration and becomes refractory to the phosphaturic effect of PTH. This refractoriness is due to decreased pCO2 rather than to the concomitant extracellular alkalosis.[19] "
     
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