Re: 's Disease

[Guest guest]

Normal range would be nice. I wish you all well, also!!

[Guest guest]

,

Maybe this is why I've had both normal and elevated copper levels...it's PSC related and not 's. I like the sound of that better.

[Guest guest]

There is a genetic test for 's - so regardless of the outcome of

the urine test your son should probably get treated for 's. My

husband had the 's genetic test because of high copper levels in

his liver and it turned out heterozygous - i.e. he got the 's

gene from one of his parents, although this shouldn't be enough to

actually give him 's. The one question that hasn't been

answered, though, is whether there is some anomalous kind of 's

where if you have one gene with the regular mutation and another gene

with some heretofore-undiscovered mutation, it gives you some

PSC/'s combo. or something.

, you had a test turn out positive for 's and they did not

put you on the 's meds? What about zinc? Are they having you

take zinc? My husband takes zinc twice daily because i read some study

in one of david's articles about how that has been shown to be (almost)

as effective as the regular medications. I probably kept it and can

email it to you if you want. tx,

nina

[Guest guest]

There is a genetic test for 's - so regardless of the outcome of

the urine test your son should probably get treated for 's. My

husband had the 's genetic test because of high copper levels in

his liver and it turned out heterozygous - i.e. he got the 's

gene from one of his parents, although this shouldn't be enough to

actually give him 's. The one question that hasn't been

answered, though, is whether there is some anomalous kind of 's

where if you have one gene with the regular mutation and another gene

with some heretofore-undiscovered mutation, it gives you some

PSC/'s combo. or something.

, you had a test turn out positive for 's and they did not

put you on the 's meds? What about zinc? Are they having you

take zinc? My husband takes zinc twice daily because i read some study

in one of david's articles about how that has been shown to be (almost)

as effective as the regular medications. I probably kept it and can

email it to you if you want. tx,

nina

[Guest guest]

I think it's important to recognize that PSC is associated with

copper accumulation, much as in 's disease:

Gastroenterology. 1985 Aug;89(2):272-8.

Abnormalities in tests of copper metabolism in primary sclerosing

cholangitis.

Gross JB Jr, Ludwig J, Wiesner RH, McCall JT, LaRusso NF.

Primary sclerosing cholangitis is a chronic, cholestatic syndrome

characterized by fibrosing inflammation of the bile ducts that may

lead to cirrhosis and death from liver failure. Previous reports have

suggested abnormal hepatic copper metabolism in this disease.

Therefore, in 70 patients, we prospectively determined the levels of

hepatic copper, serum copper, and serum ceruloplasmin, and the rate

of urinary copper excretion to assess the diagnostic and prognostic

usefulness of these tests. Virtually all patients had at least one

abnormal copper test. Hepatic copper levels were elevated in 87% of

patients [292 +/- 38 micrograms/g dry wt (mean +/- SE)] and 24-h

urinary copper levels in 64% of patients [135 +/- 15 micrograms/24 h

(mean +/- SE)] to values comparable to those seen in 's disease

or primary biliary cirrhosis. In advanced histologic stages of

primary sclerosing cholangitis, progressively higher mean levels of

hepatic and urinary copper were found. In the liver, mean copper

content (in micrograms per gram dry weight) in disease stages I and

II was 147 +/- 36 (mean +/- SE); in stage III (fibrosis), 302 +/- 68;

and in stage IV (cirrhosis), 379 +/- 69. In the urine, mean copper

excretion (in micrograms per 24 h) in stages I and II was 72 +/- 14

(mean +/- SE); in stage III, 100 +/- 14; and in stage IV, 207 +/- 30.

Higher hepatic and urinary copper levels at initial evaluation were

associated with decreased survival during a median follow-up period

of 2.6 yr: patients with hepatic copper greater than 250 micrograms/g

dry wt and urinary copper excretion greater than 200 micrograms/24 h

at initial evaluation had an 18-mo survival of less than 60%. We

conclude that abnormal copper metabolism is a universal feature of

primary sclerosing cholangitis, that hepatic copper accumulates and

urinary copper excretion increases as the disease progresses, and

that the hepatic copper concentration and the 24-h urinary copper

determination are useful prognostic indicators in this disease.

PMID: 4007418.

So a high hepatic or urinary copper level does not necessarily

mean " 's disease " .

Strictly, 's disease is caused by a mutation in a gene

encoding the copper-transport protein, ATP7B.

Aoki T 2005 Genetic disorders of copper transport--diagnosis and new

treatment for the patients of 's disease. No To Hattatsu 37: 99-

109.

" The ATPase transports copper into the hepatocyte secretory

pathway for incorporation into ceruloplasmin and excretion into the

bile. Thus, patients with 's disease of the autosomal recessive

trait present with signs and symptoms arising from impaired biliary

copper excretion. "

Best regards,

Dave

(father of (21); PSC 07/03; UC 08/03)