[Acute liver failure as the initial manifestation of Wilson disease].
BACKGROUND
Establishing an early diagnosis is crucial to successfully treat mostly young patients with sudden onset acute hepatic failure as the initial symptom of Wilson's disease. Recognition of the entity of Wilsonian fulminant hepatitis is important, because liver transplantation improves survival if performed in a timely fashion.


METHODS
Retrospective case analysis regarding characteristic profile of standard laboratory parameters and clinical course of acute Wilsonian hepatic failure.


RESULTS
In two female patients (age 17 and 27 years) with non-autoimmune hemolysis serum AST and ALT levels were only moderately elevated with a conspicuously diminished ALT activity and relatively low serum alkaline phosphatase (AP) levels. Despite immediate application of D-Penicillamin one patient died from complications of multiorgan failure.


CONCLUSIONS
In fulminant Wilsonian hepatic failure the AP/bilirubin ratio is usually below 2. Additionally calculation of free copper concentration in serum and renal excretion of ionic copper in combination with non-autoimmune hemolysis provide clues to establish an early diagnosis of Wilsonian hepatic failure.
Herrmann
S
S
Medizinische Universitätsklinik IV, Ruprecht-Karls-Universität Heidelberg.
Hofmann
W
W
Theilmann
L
L
D000293:Adolescent; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006501:Hepatic Encephalopathy / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D008099:Liver / Q000473:pathology; D017114:Liver Failure, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D008111:Liver Function Tests; D009102:Multiple Organ Failure / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology; D012189:Retrospective Studies
Akutes Leberversagen als Erstmanifestation bei Morbus Wilson.