[Acute hemolysis crisis revealed a Wilson disease].

Diagnostic d’une maladie de Wilson devant une anémie hémolytique.

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
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

Pagination

425-432

Auteurs

Guillaume Feugray (G)

Service d'hématologie biologique, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.

Jennifer Guillerme (J)

Service de biochimie générale, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.

François Fraissinet (F)

Service de biochimie générale, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.

Valéry Brunel (V)

Service de biochimie générale, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.

Abdeslam Chagraoui (A)

Service de biochimie générale, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.

Clémentine Dumant-Forest (C)

Service de pédiatrie, CHU-Hôpitaux de Rouen, France.

Agnès Lahary (A)

Service d'hématologie biologique, Institut de biologie clinique, CHU-Hôpitaux de Rouen, France.

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Classifications MeSH