Wilson's disease in patients presenting with liver disease: A diagnostic challenge

Wilson's disease in patients presenting with liver disease: A diagnostic challenge

BACKGROUND & AIMS: In patients with Wilson's disease presenting with liver involvement, the correct diagnosis is often missed or delayed. The aim of this study was to find an algorithm for diagnosis of this difficult patient group. METHODS: Clinical and laboratory findings of 55 patients wi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Gastroenterology (New York, N.Y. 1943) N.Y. 1943), 1997-07, Vol.113 (1), p.212-218
Hauptverfasser: Steindl, P, Ferenci, P, Dienes, HP, Grimm, G, Pabinger, I, Madl, C, Maier- Dobersberger, T, Herneth, A, Dragosics, B, Meryn, S, Knoflach, P, Granditsch, G, Gangl, A
Format: Artikel
Sprache:eng
Schlagworte:
Adolescent
Algorithms
Biological and medical sciences
Biopsy
Ceruloplasmin - analysis
Child
Copper - metabolism
Diagnosis, Differential
Female
Hepatolenticular Degeneration - diagnosis
Hepatolenticular Degeneration - genetics
Humans
Liver - chemistry
Liver - pathology
Liver Diseases - diagnosis
Male
Medical sciences
Metabolic diseases
Metals (hemochromatosis...)
Other metabolic disorders
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:BACKGROUND & AIMS: In patients with Wilson's disease presenting with liver involvement, the correct diagnosis is often missed or delayed. The aim of this study was to find an algorithm for diagnosis of this difficult patient group. METHODS: Clinical and laboratory findings of 55 patients with Wilson's disease were evaluated at diagnosis before treatment. Presenting symptom was chronic liver disease in 17 patients, fulminant hepatic failure in 5 patients, hemolysis in 3 patients, and neurological disease in 20 patients, and 10 patients were detected by family screening (siblings). Evaluation included neurological and ophthalmologic examination, routine laboratory tests, and parameters of copper metabolism including liver copper content in 43 liver biopsy specimens. RESULTS: In the whole group, serum ceruloplasmin level was
ISSN:0016-5085
1528-0012
DOI:10.1016/S0016-5085(97)70097-0