Work

Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319

Year: 2001

Type: article

Abstract: We describe a 19-year-old woman with haemolytic anaemia and thrombocytopenia as the initial manifestation of Wilson disease (WD). There are two reasons for reporting such an improbable case. First, it emphasizes the importance of recognizing atypical clinical presentations of potentially lethal recessive traits for which therapy is available. Second, it shows that, even in a monogenic disorder like WD, the phenotype cannot be extrapolated from the mutated genotype in a simple fashion; this patient had a relatively late-onset form of WD despite homozygosity for a genetic lesion leading to an apparent complete loss of function of the WD copper transporter.

Source: British Journal of Haematology

DOI: 10.1046/j.1365-2141.2001.02899.x

Authors: Maura Prella, Roberto Baccalà, Jean‐Daniel Horisberger, Dominique Belin, Francesco Di Raimondo, Rosangela Invernizzi, Rosaria Garozzo, Marc Schapira

Institutions: Centre Hospitalier Universitaire Vaudois, University of Lausanne, University of Geneva, University of Pavia, University of Catania, University of Pennsylvania

Language: English

Topic: Trace Elements in Health

Subfield: Nutrition and Dietetics

Field: Nursing

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2011657333

FWCI: 0.337

Cites: 10

Cited by: 17

Related to: 10