Turnover Studies of Copper in Homozygotes and Heterozygotes for Wilson's Disease and Controls: Isotope Tracer Studies with 67Cu

1972 ◽  
Vol 43 (5) ◽  
pp. 605-615 ◽  
Author(s):  
G. T. Strickland ◽  
W. M. Beckner ◽  
Mei-Ling Leu ◽  
S. O'Reilly
Keyword(s):  
Wilson’S Disease ◽  
Normal Liver ◽  
Normal Subjects ◽  
Wilson's Disease ◽  
Whole Body ◽  
Half Time ◽  
Tracer Studies ◽  
Faecal Excretion ◽  
Isotope Tracer ◽  
Biological Half Time

1. Studies with 67Cu were carried out on thirteen patients with Wilson's disease (WD), twenty-nine of their parents and siblings, thirteen normal subjects and seven subjects with cirrhosis of the liver. Control subjects and five siblings of patients with WD generally excreted more than 15% of the dose of 67Cu in their 5-day stool collections, had normal liver/thigh radioactivity ratio patterns, and had whole-body biological 67Cu half-times of less than 40 days. The remaining twenty-four family members, including all twelve parents, and the patients with WD generally excreted less than 15% of the dose of 67Cu in their 5-day stool collections, had abnormal liver/thigh radioactivity ratio patterns, and had whole-body biological 67Cu half-times greater than 40 days. 2. The data demonstrate a normal 67Cu biological half-time of 28 days and faecal excretion of 22% in 5 days, and suggest a decreased biliary excretion of copper in both homozygous and heterozygous individuals with WD.

Absorption of Copper in Homozygotes and Heterozygotes for Wilson's Disease and Controls: Isotope Tracer Studies with 67Cu and 64Cu

1972 ◽  
Vol 43 (5) ◽  
pp. 617-625 ◽  
Author(s):  
G. T. Strickland ◽  
W. M. Beckner ◽  
Mei-Ling Leu
Keyword(s):  
Wilson’S Disease ◽  
Body Burden ◽  
Normal Subjects ◽  
Wilson's Disease ◽  
Cirrhosis Of The Liver ◽  
Whole Body ◽  
Faecal Excretion ◽  
Body Retention ◽  
Body Counting ◽  
The Mean

1. Absorption of copper was determined by the simultaneous administration of 64Cu orally and 67Cu intravenously to six patients with Wilson's disease (WD), eighteen of their parents and siblings, four normal subjects and three subjects with cirrhosis of the liver. Absorption was calculated by three methods: (1) the mean ratio of 64Cu to 67Cu body retention at 3 and 4 days as determined by whole-body counting; (2) the mean ratio of 64Cu to 67Cu at 3 and 4 days as determined by faecal excretion; and (3) the mean ratio of 64Cu to 67Cu plasma radioactivity 6–24 h after administration. 2. The total-body counting and faecal methods for determining copper absorption agreed with each other, demonstrating that the normal absorption of copper is 40–70% (mean 56%) of the dose and that absorption is not influenced by cirrhosis of the liver, age or sex; but it appears to be inversely related to the amount of carrier copper. The absorption of copper in both homozygotes and heterozygotes for WD did not differ significantly from that of the control subjects. Therefore, the increased body burden of copper in WD does not appear to be due to over absorption, but rather to decreased biliary excretion of copper.

Use of a Stable Copper Isotope (65Cu) in the Differential Diagnosis of Wilson's Disease

1995 ◽  
Vol 88 (6) ◽  
pp. 727-732 ◽  
Author(s):  
T. D. B. Lyon ◽  
G. S. Fell ◽  
D. Gaffney ◽  
B. A. McGaw ◽  
R. I. Russell ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Stable Isotope ◽  
Confidence Interval ◽  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Half Time ◽  
Control Subjects ◽  
Plasma Pool ◽  
Biological Half Time

1. 65Cu/63Cu stable-isotope ratios have been measured in blood serum after oral administration of the stable isotope 65Cu. The incorporation of the isotope into the plasma protein pool was followed at various times for up to 3 days. The resulting patterns of enrichment in healthy control subjects, in Wilson's disease patients and in heterozygotes for the Wilson's disease gene, were similar in appearance to those found by others using copper radioactive isotopes. After an initially high enrichment at 2h after dosage, the Wilson's disease cases, in contrast to the control subjects, did not show a secondary rise in isotope enrichment of the plasma pool after 72 h, demonstrating a failure to incorporate copper into caeruloplasmin. The Wilson's disease heterozygotes had variable degrees of impairment of isotope incorporation, not always distinguished from those of control subjects. 2. The stability of the isotope also permits the copper tracer to be followed for a longer period. Ten healthy subjects were studied for over 40 days, allowing the biological half-time of an oral dose of copper to be determined (median 18.5 days, 95% confidence interval 14–26 days). Known heterozygotes for the Wilson's disease gene were found to have a significantly increased biological half-time for removal of copper from the plasma pool (median 43 days, 95% confidence interval 32–77 days). 3. The incorporation of 65Cu in patients with diseases of the liver (other than Wilson's disease) was found to be similar to that in control subjects, aiding differential diagnosis.

Metabolism of copper in Wilson's disease and in normal subjects

1954 ◽  
Vol 17 (2) ◽  
pp. 205-213 ◽  
Author(s):  
C.J. Earl ◽  
Mildred Jewett Moulton ◽  
Bertram Selverstone
Keyword(s):  
Wilson’S Disease ◽  
Normal Subjects ◽  
Wilson's Disease

The Characterisation of Individuals with Respect to Wilson's Disease

1974 ◽  
Vol 23 (S1) ◽  
pp. 315-324
Author(s):  
Sean O'Reilly
Keyword(s):  
Wilson’S Disease ◽  
False Negative ◽  
Wilson's Disease ◽  
Whole Body ◽  
Intestinal Excretion ◽  
Negative Results ◽  
Liver Copper ◽  
False Negative Results ◽  
Prolonged Retention ◽  
Abnormal Individual

In the case of heredo-familial diseases it is desirable to identify the abnormal genotype, the homozygously abnormal individual, if possible while still asymptomatic, and the carrier of the abnormal gene or allele, the heterozygote.So far as Wilson's disease is concerned, it is possible to diagnose individuals as presymptomatic homozygotes by finding Kayser-Fleischer corneal rings on slit-lamp microscopy, or by demonstrating increased liver-copper on needle biopsy.False-negative results are common, however, and more reliable identification of the presymptomatic homozygote as well as the heterozygote can be achieved by studies of the physiology of copper, using tracer doses of radioactive copper, 67copper, which has a physical half life of about 61 hours. Using this method it can be shown:1. That there is prolonged retention of copper in the whole body in both homozygotes and heterozygotes, the former showing more prolonged retention than the latter.2. In both there is retention of copper in the liver, again more marked in the homozygote than in the heterozygote.3. There is decreased intestinal excretion of copper in both cases as manifested by decreased biliary radiocopper and decreased stool radiocopper, and again this is most marked in the homozygote.4. Urinary excretion of radiocopper is usually increased significantly in the homozygote, but is usually normal or only very slightly increased in the heterozygote.5. The additional finding of impaired ceruloplasmin biosynthesis is sufficient usually to distinguish with certainty between the presymptomatic homozygote and the heterozygote.

Analysis of copper and lead in hair using the nuclear microscope; results from normal subjects, and patients with Wilson's disease and lead poisoning

The Analyst ◽  
1995 ◽  
Vol 120 (3) ◽  
pp. 789 ◽  
Author(s):  
Frank Watt ◽  
Judith P. Landsberg ◽  
Jonathan J. Powell ◽  
Roland J. Ede ◽  
Richard P. H. Thompson ◽  
...  
Keyword(s):  
Lead Poisoning ◽  
Wilson’S Disease ◽  
Normal Subjects ◽  
Wilson's Disease ◽  
Lead In Hair
Sign in / Sign up

Export Citation Format

Share Document