[Acute hemolysis crisis revealed a Wilson disease].
Diagnostic d’une maladie de Wilson devant une anémie hémolytique.
Acute Disease
Adolescent
Anemia, Hemolytic
/ complications
Child
Child, Preschool
Copper-Transporting ATPases
/ genetics
Diagnosis, Differential
Family
Female
Hemolysis
/ physiology
Hepatic Insufficiency
/ complications
Hepatolenticular Degeneration
/ complications
Humans
Hypophosphatemia
/ complications
Male
Siblings
Wilson disease
acute haemolytic anemia
ceruleoplasmin
copper
hypophosphatemia
Journal
Annales de biologie clinique
ISSN: 1950-6112
Titre abrégé: Ann Biol Clin (Paris)
Pays: France
ID NLM: 2984690R
Informations de publication
Date de publication:
01 08 2020
01 08 2020
Historique:
pubmed:
4
7
2020
medline:
26
9
2020
entrez:
4
7
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32618564
pii: abc.2020.1574
doi: 10.1684/abc.2020.1574
doi:
Substances chimiques
ATP7B protein, human
EC 7.2.2.8
Copper-Transporting ATPases
EC 7.2.2.8
Types de publication
Case Reports
Journal Article
Langues
fre
Sous-ensembles de citation
IM