title: Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.
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.
authors.affiliation: Division of Haematology, Department of Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Prella
authors.forename: R
authors.initials: R
authors.lastname: Baccalà
authors.forename: J D
authors.initials: JD
authors.lastname: Horisberger
authors.forename: D
authors.initials: D
authors.lastname: Belin
authors.forename: F
authors.initials: F
authors.lastname: Di Raimondo
authors.forename: R
authors.initials: R
authors.lastname: Invernizzi
authors.forename: R
authors.initials: R
authors.lastname: Garozzo
authors.forename: M
authors.initials: M
authors.lastname: Schapira
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000743:Anemia, Hemolytic / Q000188:drug therapy / Q000209:etiology*; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D002614:Chelating Agents / Q000627:therapeutic use; D015913:Chelation Therapy; D003300:Copper; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000188:drug therapy / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D013921:Thrombocytopenia / Q000188:drug therapy / Q000209:etiology*; D014266:Trientine / Q000627:therapeutic use
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D002614:Chelating Agents; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D014266:Trientine