[Early diagnosis of Wilson's disease in childhood (author's transl)].
Most of the time Wilson's disease becomes clinically evident in childhood by atypical abdominal symptoms. Therefore early diagnosis is very difficult. In four out of eight patients with Wilson's disease, diagnosed relatively early in the Children's Hospital of Heidelberg University, we could demonstrate that each case of liver disease, which cannot be classified, may be suspicious of Wilson's disease. Even normal levels of ceruloplasmin in serum and copper in urine are not inconsistent with Wilson's disease. There is no screening method in infancy. Fatty liver in school children is very suspicious of Wilson's disease.
D000293:Adolescent; D000328:Adult; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D003300:Copper / Q000032:analysis / Q000652:urine; D003951:Diagnostic Errors; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000652:urine; D006801:Humans; D008099:Liver / Q000032:analysis; D008297:Male; D011868:Radioisotopes; D013997:Time Factors
D011868:Radioisotopes; D003300:Copper; D002570:Ceruloplasmin
Frühdiagnose des Morbus Wilson im Kindesalter.