CareLit Fachartikel
Different clinical presentation of Wilson's disease in identical twins
D Németh, A Folhoffer, A Krolopp, S László, Z Gerlei, F Szalay · Zeitschrift für Gastroenterologie · 2015 · Heft 05
Dokument
1175589
CareLit-ID
Jahr
2015
Publikation
PDF
nein
Metadaten
DOI
ja
zitierfähig
Bibliografische Angaben
Zusammenfassung
Introduction: Wilson's disease (WD) is a rare autosomal recessive disease caused by mutation of the ATP7B gene. The toxic accumulation of copper in many organs is fatal without treatment. The diagnosis may be difficult because of vide variability of symptoms. Only few papers are available on identical twins with WD. Here we report on identical twins with different clinical presentation. Case report: 21-year-old female university student went to see the doctor because of abdominal discomfort, nausea and vomiting. Liver cirrhosis was diagnosed. The cause of the liver disease was not identified that time. Symptoms…
Schlagworte
Transplantation
Ceruloplasmin
Bilirubin
Diagnosis
Alleles
Ammonia
After
Zeitschrift für Gastroenterologie
