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p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease.
Carvalho Silva, Daniela Marisa; Marques, Nuno; Azevedo, Olga; Miltenberger-Miltenyi, Gabriel; Bento, Dina; Guedes, João; Azevedo, Pedro; Bispo, João; Mota, Teresa; Fernandes, Raquel; Nzwalo, Hipólito; Cabrita, Ana; Ramos, André; de Jesus, Ilídio.
Afiliación
  • Carvalho Silva DM; Cardiology Department, Centro Hospitalar e Universitário do Algarve, Faro, Portugal, danielacarvalhosilva@gmail.com.
  • Marques N; Algarve Biomedical Center, Faro, Portugal, danielacarvalhosilva@gmail.com.
  • Azevedo O; Cardiology Department, Centro Hospitalar e Universitário do Algarve, Faro, Portugal.
  • Miltenberger-Miltenyi G; Algarve Biomedical Center, Faro, Portugal.
  • Bento D; Biomedical Sciences and Medicine Department, Universidade do Algarve, Faro, Portugal.
  • Guedes J; Department of Cardiology, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Azevedo P; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.
  • Bispo J; ICVS/3Bs PT Government Associate Laboratory, Guimarães, Portugal.
  • Mota T; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
  • Fernandes R; Genetics Department, Reference Center on Lysosomal Storage Disorders, Hospital Senhora da Oliveira, Guimarães, Portugal.
  • Nzwalo H; Cardiology Department, Centro Hospitalar e Universitário do Algarve, Faro, Portugal.
  • Cabrita A; Algarve Biomedical Center, Faro, Portugal.
  • Ramos A; Biomedical Sciences and Medicine Department, Universidade do Algarve, Faro, Portugal.
  • de Jesus I; Cardiology Department, Centro Hospitalar e Universitário do Algarve, Faro, Portugal.
Cardiology ; 144(3-4): 125-130, 2019.
Article en En | MEDLINE | ID: mdl-31634893
The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Alfa-Galactosidasa Límite: Humans / Male / Middle aged Idioma: En Revista: Cardiology Año: 2019 Tipo del documento: Article Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Fabry / Alfa-Galactosidasa Límite: Humans / Male / Middle aged Idioma: En Revista: Cardiology Año: 2019 Tipo del documento: Article Pais de publicación: Suiza