Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease
J. inborn errors metab. screen
; 11: e20230001, 2023. graf
Artículo
en Inglés
|
LILACS-Express
| LILACS
| ID: biblio-1448571
Biblioteca responsable:
BR1.1
ABSTRACT
Abstract Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by reduced or absent activity of the enzyme α-galactosidase A. Due to systemic accumulation of glycolipids, FD phenotype is diverse, and diagnosis may be challenging. Clinical manifestations include small fiber neuropathy, renal dysfunction, cardiac involvement, cerebrovascular disease, among others. In the present study, we describe biopsy proven small fiber neuropathy and subclinical cardiac involvement in two cousins diagnosed with FD secondary to a recently described pathogenic variant, highlighting the importance of diagnostic tools to document organ damage and allow early treatment.
Texto completo:
Disponible
Colección:
Bases de datos internacionales
Base de datos:
LILACS
Idioma:
Inglés
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2023
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
Universidade Federal de Santa Catarina/BR
/
Universidade Federal do Estado do Rio de Janeiro/BR