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Pàgina inicial > Articles > Articles publicats > The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease |
Data: | 2022 |
Resum: | Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown disease. Because of this heterogeneous clinical picture in women, the diagnosis of FD has typically been delayed for more than a decade, and the optimal time to initiate treatment remains controversial. Case Presentation. Here, we present two unrelated female patients diagnosed with FD harbouring the same pathogenic GLA variant. We discuss the implications of initiating specific therapy at different stages of the disease, with and without organ involvement (early versus late therapeutic intervention). These clinical cases suggest that initiating specific treatment at an earlier age in women with FD may prevent organ involvement and associated clinical events. |
Ajuts: | Ministerio de Economía y Competitividad PI15/01824 Ministerio de Economía y Competitividad PI16/01998 Instituto de Salud Carlos III PI18/00362 Instituto de Salud Carlos III PI19/01633 |
Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. |
Llengua: | Anglès |
Document: | Article ; recerca ; Versió publicada |
Publicat a: | Case Reports in Genetics, Vol. 2022 (december 2022) , ISSN 2090-6552 |
7 p, 303.1 KB |