Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease
J. inborn errors metab. screen
;
11: e20230001, 2023. graf
Artigo
em Inglês
|
LILACS-Express
| LILACS
| ID: biblio-1448571
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.
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DisponíveL
Índice:
LILACS (Américas)
Idioma:
Inglês
Revista:
J. inborn errors metab. screen
Assunto da revista:
Medicina Cl¡nica
/
Patologia
Ano de publicação:
2023
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade Federal de Santa Catarina/BR
/
Universidade Federal do Estado do Rio de Janeiro/BR
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