title: [Wilson' disease: rapid diagnosis and differentiation of heterozygous and homozygous carriers with 64CuCl2 (author's transl)].
abstract: In the modified radiocopper test, a constant amount of copper and not of radioactivity is injected, a difference being made between males and females. The rate of incorporation of 64Cu into caeruloplasmin and urinary excretion of nuclides is measured. It is a method with low radiation exposure, providing a definite diagnosis after 30 hours. This was demonstrated in 27 homozygous patients, 30 parents and 33 siblings, and 25 controls: a clear-cut diagnosis was made in all untreated homozygous patients. In five of eight patients treated with D-penicillamine for several years, the values were in the range of heterozygotes, so that the test makes treatment control possible. The recognition of heterozygous carriers is interfered with by contraceptives and infections. The results in control subjects were all widely outside the range for patients with Wilson's disease.
mesh_terms: D000293:Adolescent; D000328:Adult; D002353:Carrier State / Q000175:diagnosis*; D002570:Ceruloplasmin / Q000378:metabolism; D002648:Child; D003300:Copper; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D011868:Radioisotopes; D013997:Time Factors
chemical_list: D011868:Radioisotopes; D003300:Copper; D002570:Ceruloplasmin
vernacular_title: Morbus Wilson. Rasche Diagnose und Differenzierung heterozygoter und homozygoter Anlageträger mit 64CuCl2.