Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease
J. inborn errors metab. screen
; 11: e20230001, 2023. graf
Article
em En
|
LILACS-Express
| LILACS
| ID: biblio-1448571
Biblioteca responsável:
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:
1
Base de dados:
LILACS
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Brasil