Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts' perspectives
J. inborn errors metab. screen
;
10: e20210028, 2022. graf
Article
Dans Anglais
|
LILACS-Express
| LILACS
| ID: biblio-1365067
ABSTRACT
ABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Type d'étude:
Etude diagnostique
/
Facteurs de risque
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
J. inborn errors metab. screen
Thème du journal:
Medicina Cl¡nica
/
Patologia
Année:
2022
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
Hospital Infantil Albert Sabin/BR
/
Instituto Hospital de Base do Distrito Federal/BR
/
Quíron Reumatologia/BR
/
Takeda Pharmaceutical Company/BR
/
Universidade Estadual Paulista/BR
/
Universidade Federal de São Paulo/BR
/
Universidade Federal do Rio Grande do Sul/BR
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