[The Fabry nephropathy: new insight in diagnosis, monitoring and treatment].
G Ital Nefrol
; 36(4)2019 Jul 24.
Article
en It
| MEDLINE
| ID: mdl-31373466
ABSTRACT
Fabry disease is a rare inborn error of the enzyme α-galactosidase (Α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years and several issues has been discovered up to now leading to increasing knowledge and awareness of the disease. However, several aspects are still unclear and under investigation. Thus, the new challenges that physicians encounter are the discovering of the pathogenic mechanisms, the neutralising antibodies to ERT, the long-term efficacy of therapies. In this article, we summarise and review the latest developments in the science community regarding diagnosis, management and monitoring of Fabry disease concerning in particular its physiopathology, novel biomarkers, antibodies development and novel treatment options.
Palabras clave
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedad de Fabry
/
Enfermedades Renales
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Female
/
Humans
/
Male
Idioma:
It
Revista:
G Ital Nefrol
Asunto de la revista:
NEFROLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
IT
/
ITALIA
/
ITALY
/
ITÁLIA