[Wilson's disease--a factor in the differential diagnosis in hepatopathies].
The authors give an account on the incidence of Wilson's disease in two sisters (17 and 8 years). In the older one the diagnosis was established after 8, years in the younger one three years after the first laboratory sings of hepatopathy. As to the range of available laboratory methods in the diagnosis of Wilson's disease, in particular serum ceruloplasmin, serum copper and copper in urine are assessed as well as increased accumulation of copper in hepatic tissue. With regard to the serious character of Wilson's disease and the possibility of effective treatment it is important to rule it out in all cases of obscure hepatopathies, in particular in children and adolescents. It is important to take into account also atypical clinical and laboratory manifestations of Wilson's disease.
Dastych
M
M
Jezek
P
P
Snelerová
M
M
D000293:Adolescent; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis
D003300:Copper; D002570:Ceruloplasmin
Wilsonova choroba--soucást diferenciální diagnostiky hepatopatií.