Annales de Biologie Clinique
MENUAcute hemolysis crisis revealed a Wilson disease Volume 78, issue 4, Juillet-Août 2020
Authors
1 Service d’hématologie biologique, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France
2 Service de biochimie générale, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France
3 Service de pédiatrie, CHU-Hôpitaux de Rouen, France
* Correspondance
- Key words: Wilson disease, copper, ceruleoplasmin, acute haemolytic anemia, hypophosphatemia
- DOI : 10.1684/abc.2020.1574
- Page(s) : 425-32
- Published in: 2020
Wilson disease is a rare inherited disorder of copper metabolism that affects liver and brain due to copper tissue accumulation. The mechanism involved is based on mutations of the ATP7B gene. Children have predominant hepatic manifestations while adult are more often diagnosed by neurological and psychiatric symptoms. However, others features are tubulopathy, articular disorders and hemolytic anemia. We report the diagnostic of Wilson disease in a 14 years old girl and her sibling after investigation of hemolytic anemia, hepatic insufficiency, and hypophosphatemia.
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