Update on the clinical management of Wilson's disease
Peter Hedera Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and require...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Dove Medical Press
2017-01-01
|
| Series: | The Application of Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.dovepress.com/update-on-the-clinical-management-of-wilson39s-disease-peer-reviewed-article-TACG |
| _version_ | 1818260065037058048 |
|---|---|
| author | Hedera P |
| author_facet | Hedera P |
| author_sort | Hedera P |
| collection | DOAJ |
| description | Peter Hedera Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy. Keywords: Wilson’s disease, copper, ATP7B, chelation, gene therapy |
| first_indexed | 2024-12-12T18:25:24Z |
| format | Article |
| id | doaj.art-916b3e269378409eba3e8e85e41546c4 |
| institution | Directory Open Access Journal |
| issn | 1178-704X |
| language | English |
| last_indexed | 2024-12-12T18:25:24Z |
| publishDate | 2017-01-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | The Application of Clinical Genetics |
| spelling | doaj.art-916b3e269378409eba3e8e85e41546c42022-12-22T00:16:02ZengDove Medical PressThe Application of Clinical Genetics1178-704X2017-01-01Volume 1091930850Update on the clinical management of Wilson's diseaseHedera PPeter Hedera Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA Abstract: Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy. Keywords: Wilson’s disease, copper, ATP7B, chelation, gene therapyhttps://www.dovepress.com/update-on-the-clinical-management-of-wilson39s-disease-peer-reviewed-article-TACGWilson’s diseasecopperATP7Bchelationgene therapy |
| spellingShingle | Hedera P Update on the clinical management of Wilson's disease The Application of Clinical Genetics Wilson’s disease copper ATP7B chelation gene therapy |
| title | Update on the clinical management of Wilson's disease |
| title_full | Update on the clinical management of Wilson's disease |
| title_fullStr | Update on the clinical management of Wilson's disease |
| title_full_unstemmed | Update on the clinical management of Wilson's disease |
| title_short | Update on the clinical management of Wilson's disease |
| title_sort | update on the clinical management of wilson 39 s disease |
| topic | Wilson’s disease copper ATP7B chelation gene therapy |
| url | https://www.dovepress.com/update-on-the-clinical-management-of-wilson39s-disease-peer-reviewed-article-TACG |
| work_keys_str_mv | AT hederap updateontheclinicalmanagementofwilson39sdisease |