Prevalence of Fabry Disease in Patients on Dialysis in France.
Fabry disease
dialysis
genetic variants
prevalence
screening
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
20 Sep 2024
20 Sep 2024
Historique:
received:
07
08
2024
revised:
25
08
2024
accepted:
26
08
2024
medline:
29
9
2024
pubmed:
28
9
2024
entrez:
28
9
2024
Statut:
epublish
Résumé
Numerous prevalence studies on Fabry disease (FD, OMIM #301500) have been conducted in dialysis populations across the world with variable and controversial results. The FABRYDIAL study aimed to estimate the prevalence of FD in patients aged 18 to 74 years on chronic dialysis in France. This cross-sectional study was conducted in patients undergoing dialysis. One hundred and twenty-four dialysis centers participated. Patients with proven causes of nephropathy unrelated to FD were excluded. Alpha-galactosidase A activity was assayed in men, and both α-galactosidase A and lyso-Gb
Identifiants
pubmed: 39337589
pii: ijms251810104
doi: 10.3390/ijms251810104
pii:
doi:
Substances chimiques
alpha-Galactosidase
EC 3.2.1.22
globotriaosyl lysosphingolipid
126550-86-5
GLA protein, human
EC 3.2.1.22
Glycolipids
0
Sphingolipids
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Sanofi (France)
ID : Investigator Sponsored Study ISS