[A case of Wilson's disease with an atypical clinical course].
The case of atypical course of Wilson's disease in a 31 years old woman was reported. Basing on its clinical presentation it was classified as a liver form. The laboratory criteria necessary for the diagnosis of this disease are as follows: increase of cooper concentration in liver tissue (above 500 micrograms copper per gram dry substance), defect of copper incorporation into ceruloplasmin in 24 hours copper excretion test in urine (above mumol/24 h). In this report the main principles of pharmacotherapy were summarized, with particular stress on the necessity throughout the patient's life.
Michałowska-Kurowska
M
M
Oddziału Chorób Wewnetrznych Szpitala Morskiego im. PCK w Gdyni.
Czajka
M
M
Kadylak
B
B
D000328:Adult; D002570:Ceruloplasmin / Q000652:urine; D003300:Copper / Q000378:metabolism; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000378:metabolism; D010375:Pedigree
D003300:Copper; D002570:Ceruloplasmin
Przypadek choroby Wilsona o nietypowym przebiegu.