Wilson’s Disease
| Main Author: | |
|---|---|
| Publication Date: | 2024 |
| Language: | eng |
| Source: | Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) |
| Download full: | http://hdl.handle.net/10400.10/2514 |
Summary: | WD is rare, and the diagnostic suspicion should be high in young patients with subacute or acute chronic liver disease: a diagnosis made in time can avoid a liver transplant. The diagnostic workup was not straightforward, and genetic testing was necessary to confirm the diagnosis To our knowledge, this is the first report of this compound heterozygote genotype. The c.3402del mutation has been described as liver-predominant in heterozygous and neurologically predominant in homozygous patients. The c.3061-12T>A mutation is described as neurologically predominant. The evolution of our patient remains to be seen in the long-term follow-up. |
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Wilson’s Diseasefirst report of two combined mutational variants in a Portuguese patientfirst report of two combined mutational variants in a Portuguese patientWilson’s DiseaseWD is rare, and the diagnostic suspicion should be high in young patients with subacute or acute chronic liver disease: a diagnosis made in time can avoid a liver transplant. The diagnostic workup was not straightforward, and genetic testing was necessary to confirm the diagnosis To our knowledge, this is the first report of this compound heterozygote genotype. The c.3402del mutation has been described as liver-predominant in heterozygous and neurologically predominant in homozygous patients. The c.3061-12T>A mutation is described as neurologically predominant. The evolution of our patient remains to be seen in the long-term follow-up.Unidade Local de Saúde Amadora / SintraTrindade, Miguel2024-02-01T11:31:57Z2024-01-302024-01-30T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/vnd.openxmlformats-officedocument.presentationml.presentationhttp://hdl.handle.net/10400.10/2514enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-03-10T15:03:39Zoai:repositorio.hff.min-saude.pt:10400.10/2514Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-29T01:16:43.968315Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse |
| dc.title.none.fl_str_mv |
Wilson’s Disease first report of two combined mutational variants in a Portuguese patient |
| title |
Wilson’s Disease |
| spellingShingle |
Wilson’s Disease Trindade, Miguel first report of two combined mutational variants in a Portuguese patient Wilson’s Disease |
| title_short |
Wilson’s Disease |
| title_full |
Wilson’s Disease |
| title_fullStr |
Wilson’s Disease |
| title_full_unstemmed |
Wilson’s Disease |
| title_sort |
Wilson’s Disease |
| author |
Trindade, Miguel |
| author_facet |
Trindade, Miguel |
| author_role |
author |
| dc.contributor.none.fl_str_mv |
Unidade Local de Saúde Amadora / Sintra |
| dc.contributor.author.fl_str_mv |
Trindade, Miguel |
| dc.subject.por.fl_str_mv |
first report of two combined mutational variants in a Portuguese patient Wilson’s Disease |
| topic |
first report of two combined mutational variants in a Portuguese patient Wilson’s Disease |
| description |
WD is rare, and the diagnostic suspicion should be high in young patients with subacute or acute chronic liver disease: a diagnosis made in time can avoid a liver transplant. The diagnostic workup was not straightforward, and genetic testing was necessary to confirm the diagnosis To our knowledge, this is the first report of this compound heterozygote genotype. The c.3402del mutation has been described as liver-predominant in heterozygous and neurologically predominant in homozygous patients. The c.3061-12T>A mutation is described as neurologically predominant. The evolution of our patient remains to be seen in the long-term follow-up. |
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2024 |
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2024-02-01T11:31:57Z 2024-01-30 2024-01-30T00:00:00Z |
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conference object |
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http://hdl.handle.net/10400.10/2514 |
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http://hdl.handle.net/10400.10/2514 |
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eng |
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eng |
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