CareLit Fachartikel
ABCB4 deficiency is causative for hepatic copper accumulation in a patient with features of Wilson Disease
C Jüngst, F Lammert, V Zimmer · Zeitschrift für Gastroenterologie · 2012 · Heft 01
Dokument
1140467
CareLit-ID
Jahr
2012
Publikation
PDF
nein
Metadaten
DOI
ja
zitierfähig
Bibliografische Angaben
Zusammenfassung
Clinical Case: A 21-year-old patient presented with mild pruritus and elevated liver enzymes (ALT 181 U/L; AST 106 U/L; γ-GT 212 U/L; AP 220 U/L). Of note, his sister had been diagnosed for Wilson Disease (WD) before. Comprehensive work-up provided no evidence of viral or autoimmune liver disease, primary biliary cirrhosis or sclerosing cholangitis. 24-hour urinary copper excretion was increased (101µmol/day), however, with normal serum copper and coeruloplasmin levels. Kayser-Fleischer rings were not detectable. Liver histology was compatible with chronic hepatitis with mild portal and parenchymal inflammation,…
Schlagworte
ABCB4 deficiency
progressive familial cholestasis type 3
Wilson Disease
hepatic copper accumulation
cholestasis
Chelation Therapy
Coeruloplasmin
Cholangitis
Diagnosis
Work
Hepatitis
Zeitschrift für Gastroenterologie
