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

Details

Serval ID
serval:BIB_00FDF526747D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319
Journal
British Journal of Haematology
Author(s)
Prella  M., Baccala  R., Horisberger  J. D., Belin  D., Di Raimondo  F., Invernizzi  R., Garozzo  R., Schapira  M.
ISSN
0007-1048 (Print)
Publication state
Published
Issued date
07/2001
Volume
114
Number
1
Pages
230-2
Notes
Case Reports
Journal Article --- Old month value: Jul
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.
Keywords
Adenosine Triphosphatases/*genetics Adult Anemia, Hemolytic/drug therapy/*etiology Carrier Proteins/*genetics *Cation Transport Proteins Chelating Agents/therapeutic use Chelation Therapy Copper Female Hepatolenticular Degeneration/*complications/drug therapy/*genetics Homozygote Humans Male Mutation Sequence Analysis, DNA Thrombocytopenia/drug therapy/*etiology Triethylenetetramine/therapeutic use
Pubmed
Web of science
Open Access
Yes
Create date
24/01/2008 13:38
Last modification date
20/08/2019 13:23
Usage data