[True hepatic Wilson's disease].
Fourteen cases of Wilson's disease, 9 of which in pure hepatic form are presented. Earliest clinical sign of liver disease was hepatosplenomegaly with altered indexes of hepatic function. The disease was found in 4 couples of brothers and sisters of families reported. For all cases diagnosis was based on the values of ceruloplasmin, serum copper, basal urine copper and urine copper after D-penicillamine. Furthermore in 8 cases very increased copper concentration in the liver was demonstrated. D-penicillamine therapy produced hepatic improvement in 8 cases, 6 of which affected by only hepatic form and the treatment was fairly tolerated. In 1 case this therapy caused nephrotic syndrome it was replaced with Trien-2HCL. Wilson's disease in its pure hepatic form must be considered in the differential diagnosis of liver diseases in pediatric age, especially when markers of viral hepatitis are absent. The identification of pure hepatic form provides early diagnosis of Wilson's disease, basic requirement for an effective therapy.
D000293:Adolescent; D002570:Ceruloplasmin / Q000032:analysis*; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood / Q000652:urine; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008297:Male; D010396:Penicillamine / Q000627:therapeutic use
D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine
Malattia di Wilson epatica pura.