The DOI matches its Crossref record; 115 of the 115 references it cites were found in a registry or an index.
Wilson disease
Open accessAbstract
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. WD is caused by mutations in ATP7B, which encodes a transmembrane copper-transporting ATPase, leading to impaired copper homeostasis and copper overload in the liver, brain and other organs. The clinical course of WD can vary in the type and severity of symptoms, but progressive liver disease is a common feature. Patients can also present with neurological disorders and psychiatric symptoms. WD is diagnosed using diagnostic algorithms that incorporate clinical symptoms and signs, measures of copper metabolism and DNA analysis of ATP7B. Available treatments include chelation therapy and zinc salts, which reverse copper overload by different mechanisms. Additionally, liver transplantation is indicated in selected cases. New agents, such as tetrathiomolybdate salts, are currently being investigated in clinical trials, and genetic therapies are being tested in animal models. With early diagnosis and treatment, the prognosis is good; however, an important issue is diagnosing patients before the onset of serious symptoms. Advances in screening for WD may therefore bring earlier diagnosis and improvements for patients with WD.Wilson disease is an inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. This Primer describes the pathogenesis of this disorder and outlines diagnostic and management strategies.
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Cites
The model for end-stage liver disease (MELD)
Kamath, P. S., & Kim, R. W. (2007) · Hepatology · doi:10.1002/hep.21563 · Cited by 1,674
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Diagnosis and treatment of Wilson disease: An update
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Self-citationEASL Clinical Practice Guidelines: Wilson’s disease
European Association for the Study of the Liver (2012) · Journal of Hepatology · doi:10.1016/j.jhep.2011.11.007 · Cited by 1,243
Wilson's disease and other neurological copper disorders
Bandmann, O., Weiss, K. H., & Kaler, S. G. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70190-5 · Cited by 1,036
Self-citationDiagnosis and phenotypic classification of Wilson disease1
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Self-citationWilson's disease in children: 37-Year experience and revised King's score for liver transplantation
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Liver cell death and anemia in Wilson disease involve acid sphingomyelinase and ceramide
Lang, P. A., Schenck, M., Nicolay, J. P., Becker, J. U., Kempe, D. S., Lupescu, A., Koka, S., Eisele, K., Klarl, B. A., Rübben, H., et al. (2007) · Nature Medicine · doi:10.1038/nm1539 · Cited by 438
THE COPPER AND IRON CONTENT OF BRAIN AND LIVER IN THE NORMAL AND IN HEPATO-LENTICULAR DEGENERATION
CUMINGS, J. N. (1948) · Brain · doi:10.1093/brain/71.4.410 · Cited by 385
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López-Otín, C., & Kroemer, G. (2021) · Cell · doi:10.1016/j.cell.2020.11.034 · Cited by 499
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Autophagy in hepatic adaptation to stress
Hazari, Y., Bravo-San Pedro, J. M., Hetz, C., Galluzzi, L., & Kroemer, G. (2020) · Journal of Hepatology · doi:10.1016/j.jhep.2019.08.026 · Cited by 151
Cu Homeostasis in Bacteria: The Ins and Outs
Andrei, A., Öztürk, Y., Khalfaoui-Hassani, B., Rauch, J., Marckmann, D., Trasnea, P.-I., Daldal, F., & Koch, H.-G. (2020) · Membranes · doi:10.3390/membranes10090242 · Cited by 153
Metadata
- Authors
- Członkowska, A., Litwin, T., Dusek, P., Ferenci, P., Lutsenko, S., Medici, V., Rybakowski, J. K., Weiss, K. H., & Schilsky, M. L.
- Venue
- Nature Reviews Disease Primers
- Published
- 2018-09-06
- Volume
- 4
- Issue
- 1
- Pages
- 21-21
- ISSN
- 2056-676X (ISSN-L)
- OpenAlex
- W3212080551
- Cited by
- 913
- References
- 115
- FWCI
- 9.81
- Type
- journal article
- Language
- en
- Open access
- green
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- Członkowska, A., Litwin, T., Dusek, P., Ferenci, P., Lutsenko, S., Medici, V., Rybakowski, J. K., Weiss, K. H., & Schilsky, M. L. (2018). Wilson disease. Nature Reviews Disease Primers. https://doi.org/10.1038/s41572-018-0018-3
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