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Re: Article on porphyrias

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Jim and all

Went to visit a relative with MS and discussed porphyria. To my

amazement he has a carer that visits in the morning with a son

suffering porphyria. The drop the jaw moment similar to the michael

jackson verdict- although his jaw wasn't the only thing to drop, he

lost a piece of his nose, a bit of his ear(just joking). Anyways

apparently the son avoids the sun, stays in a darkened room and when

his symptoms get bad he HAS DIALYSIS AND IS WARNED THAT GOING IN THE

SUN WILL BUILD HIS TOXINS UP AGAIN.WOW WEE WOO !!!... -wHAT A

STORY!!! AND WHAT A PIECE OF MEDICAL PRACTISE USED TO DO EXACTLY

WHATY i WAS POSTULATING. Clean the toxins people.

-- In infections , Jim Kepner

<jimk192002@y...> wrote:

> An excellent and detailed link on porphyrias, focused

> on environmental causes (chemicals, etc) but would

> also include those bacterially derived. Some of you

> chemists may find their diagrams informative.

> http://www.herc.org/news/mcsarticles/daniell-full.html#sec

>

> I'll include here a quote on lab testing for this from

> the webpage:

> "

>

> Laboratory Evaluation--Diagnosis of Porphyria

> The nature and pattern of a patient's symptoms and

> physical signs may provide some guidance in the

> selection of tests for evaluating the symptomatic

> patient with suspected porphyria. However, the

> neurologic and cutaneous manifestations of porphyrias

> can be nonspecific or atypical and caution is

> necessary to avoid being overly focused on the basis

> of clinical appearance in initial test selection.

> Reviewers make slightly different recommendations

> regarding the appropriate panel of first-line tests

> for the evaluation of suspected porphyria. The most

> common recommendation--when symptoms suggest possible

> neurologic manifestation(s) of an acute porphyria--is

> for the measurement of PBG with or without ALA in

> urine (46,52,54,189). Most reviewers also recommend

> quantification of total or individual porphyrins in

> urine and, routinely or supplementally, in

> stool--particularly when symptoms or signs suggest

> possible cutaneous manifestations of porphyria.

> Measurement of protoporphyrin in blood is often

> recommended, depending on the degree of suspicion for

> erythropoietic protoporphyria. (10)

> alternatively recommends measurement of total plasma

> porphyrins, plus urine PBG and ALA, to determine the

> presence or absence of porphyria. A blood lead level,

> with or without a ZPP level, should also be considered

> because of the similarity of symptoms in lead

> poisoning and porphyrias with neurologic

> manifestations.

>

> It is generally less difficult to determine whether a

> patient has porphyria than it is to differentiate

> which specific type of porphyria is present. The

> presence or absence of increases in urinary ALA and

> PBG and the relative increases in the individual

> porphyrins are particularly helpful in diagnosis. The

> nature and pattern of reported symptoms can assist in

> differentiation. The cited general references and

> review articles (1-10,46,52,54,189) provide

> information regarding the patterns of laboratory

> abnormalities to consider in attempting to

> differentiate the specific type of porphyria in the

> patient who has laboratory and clinical evidence

> consistent with a porphyria. We will not discuss

> further this level of differential diagnosis; we will

> focus on preliminary screening steps in the diagnostic

> evaluation of a possible porphyria. "

>

> Jim

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Geez, so interesting that our sun intolerance may be due to

porphyria (toxins) rather than the recently touted excess of vitamin

D. Or perhaps porphyria and D are connected in some way?

Also interesting, now that my daughter seems to be highly

functioning after a few months on minocycline (ah, to be young and

physically fit with great blood flow), that she can tolerate the sun

again, doesn't get the sun induced headaches, etc. She has even been

out in the sun tanning just a little (people have been shocked about

how white she was. Japanese exchange students flocked to her :-).

This is the healthiest she's looked in the last few years.

Apparently, cleaning up the bugs, and clearing the toxins have made

all the difference.

penny

> Jim and all

> Went to visit a relative with MS and discussed porphyria. To my

> amazement he has a carer that visits in the morning with a son

> suffering porphyria. Anyways

> apparently the son avoids the sun, stays in a darkened room and

when

> his symptoms get bad he HAS DIALYSIS AND IS WARNED THAT GOING IN

THE

> SUN WILL BUILD HIS TOXINS UP AGAIN.WOW WEE WOO !!!... -wHAT A

> STORY!!! AND WHAT A PIECE OF MEDICAL PRACTISE USED TO DO EXACTLY

> WHATY i WAS POSTULATING. Clean the toxins people.

>

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Wow. Tell us more. What are his symptoms while in the sun.

(Thinking back on my old really bad days- nausea, head aches, skin

lesions, and sometimes vomiting).

Why does he have this condition, and what is his treatment (besides

dialysis).

Barb

> > An excellent and detailed link on porphyrias, focused

> > on environmental causes (chemicals, etc) but would

> > also include those bacterially derived. Some of you

> > chemists may find their diagrams informative.

> > http://www.herc.org/news/mcsarticles/daniell-full.html#sec

> >

> > I'll include here a quote on lab testing for this from

> > the webpage:

> > "

> >

> > Laboratory Evaluation--Diagnosis of Porphyria

> > The nature and pattern of a patient's symptoms and

> > physical signs may provide some guidance in the

> > selection of tests for evaluating the symptomatic

> > patient with suspected porphyria. However, the

> > neurologic and cutaneous manifestations of porphyrias

> > can be nonspecific or atypical and caution is

> > necessary to avoid being overly focused on the basis

> > of clinical appearance in initial test selection.

> > Reviewers make slightly different recommendations

> > regarding the appropriate panel of first-line tests

> > for the evaluation of suspected porphyria. The most

> > common recommendation--when symptoms suggest possible

> > neurologic manifestation(s) of an acute porphyria--is

> > for the measurement of PBG with or without ALA in

> > urine (46,52,54,189). Most reviewers also recommend

> > quantification of total or individual porphyrins in

> > urine and, routinely or supplementally, in

> > stool--particularly when symptoms or signs suggest

> > possible cutaneous manifestations of porphyria.

> > Measurement of protoporphyrin in blood is often

> > recommended, depending on the degree of suspicion for

> > erythropoietic protoporphyria. (10)

> > alternatively recommends measurement of total plasma

> > porphyrins, plus urine PBG and ALA, to determine the

> > presence or absence of porphyria. A blood lead level,

> > with or without a ZPP level, should also be considered

> > because of the similarity of symptoms in lead

> > poisoning and porphyrias with neurologic

> > manifestations.

> >

> > It is generally less difficult to determine whether a

> > patient has porphyria than it is to differentiate

> > which specific type of porphyria is present. The

> > presence or absence of increases in urinary ALA and

> > PBG and the relative increases in the individual

> > porphyrins are particularly helpful in diagnosis. The

> > nature and pattern of reported symptoms can assist in

> > differentiation. The cited general references and

> > review articles (1-10,46,52,54,189) provide

> > information regarding the patterns of laboratory

> > abnormalities to consider in attempting to

> > differentiate the specific type of porphyria in the

> > patient who has laboratory and clinical evidence

> > consistent with a porphyria. We will not discuss

> > further this level of differential diagnosis; we will

> > focus on preliminary screening steps in the diagnostic

> > evaluation of a possible porphyria. "

> >

> > Jim

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Barb

Basically the kid sits in a darkened room constantly and has become

very good with PC's is the overview, the remarkable bit was the

dialysis for cleaning up the toxins which I didn't lead the

discussion towards. This is why I really don't go for the literature

head over heal and defend it religiously. This is what motivates

me, 'these stories' and I will endevour to find out more, my only

disappointment was the infection angle wasn't well accepted so I cut

the discussion short.

I hope this carer wasn't the one he changed recently due to poor

performance but will unfold more soon.

> > > An excellent and detailed link on porphyrias, focused

> > > on environmental causes (chemicals, etc) but would

> > > also include those bacterially derived. Some of you

> > > chemists may find their diagrams informative.

> > > http://www.herc.org/news/mcsarticles/daniell-full.html#sec

> > >

> > > I'll include here a quote on lab testing for this from

> > > the webpage:

> > > "

> > >

> > > Laboratory Evaluation--Diagnosis of Porphyria

> > > The nature and pattern of a patient's symptoms and

> > > physical signs may provide some guidance in the

> > > selection of tests for evaluating the symptomatic

> > > patient with suspected porphyria. However, the

> > > neurologic and cutaneous manifestations of porphyrias

> > > can be nonspecific or atypical and caution is

> > > necessary to avoid being overly focused on the basis

> > > of clinical appearance in initial test selection.

> > > Reviewers make slightly different recommendations

> > > regarding the appropriate panel of first-line tests

> > > for the evaluation of suspected porphyria. The most

> > > common recommendation--when symptoms suggest possible

> > > neurologic manifestation(s) of an acute porphyria--is

> > > for the measurement of PBG with or without ALA in

> > > urine (46,52,54,189). Most reviewers also recommend

> > > quantification of total or individual porphyrins in

> > > urine and, routinely or supplementally, in

> > > stool--particularly when symptoms or signs suggest

> > > possible cutaneous manifestations of porphyria.

> > > Measurement of protoporphyrin in blood is often

> > > recommended, depending on the degree of suspicion for

> > > erythropoietic protoporphyria. (10)

> > > alternatively recommends measurement of total plasma

> > > porphyrins, plus urine PBG and ALA, to determine the

> > > presence or absence of porphyria. A blood lead level,

> > > with or without a ZPP level, should also be considered

> > > because of the similarity of symptoms in lead

> > > poisoning and porphyrias with neurologic

> > > manifestations.

> > >

> > > It is generally less difficult to determine whether a

> > > patient has porphyria than it is to differentiate

> > > which specific type of porphyria is present. The

> > > presence or absence of increases in urinary ALA and

> > > PBG and the relative increases in the individual

> > > porphyrins are particularly helpful in diagnosis. The

> > > nature and pattern of reported symptoms can assist in

> > > differentiation. The cited general references and

> > > review articles (1-10,46,52,54,189) provide

> > > information regarding the patterns of laboratory

> > > abnormalities to consider in attempting to

> > > differentiate the specific type of porphyria in the

> > > patient who has laboratory and clinical evidence

> > > consistent with a porphyria. We will not discuss

> > > further this level of differential diagnosis; we will

> > > focus on preliminary screening steps in the diagnostic

> > > evaluation of a possible porphyria. "

> > >

> > > Jim

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