Prevalence of Fabry Disease in Patients on Dialysis in France

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(18), С. 10104 - 10104

Опубликована: Сен. 20, 2024

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 of FD patients aged 18 74 years chronic France. This cross-sectional was undergoing dialysis. One hundred twenty-four centers participated. Patients proven causes nephropathy unrelated were excluded. Alpha-galactosidase A activity assayed men, both α-galactosidase lyso-Gb3 women from dried blood spots. GLA gene sequencing performed case abnormal values. If a variant identified, diagnosis validation committee consulted for adjudication. Among 6032 targeted patients, 3088 included (73.6% eligible patients). Biochemical results available 2815 (1721 men 1094 women). genetic identified five patients: benign c.937G>T/p.(Asp313Tyr) two individuals, likely c.427G>A/(p.Ala143Thr) variant, c.416A>G/(p.Asn139Ser) pathogenic c.1185dupG/p.Phe396Glyfs variant. screened 0.058% [0.010;0.328] males, 0% [0.000;0.350] females, 0.035% [0.006;0.201] when genders pooled. all 18–74 without previously known cause unlinked FD, 0.028% [0.006;0.121]. cohort French low. However, considering prognostic impact earlier diagnosis, signs should be sought nephropathies uncertain etiology.

Язык: Английский

Special issue on Fabry disease - book 1: editorial

Rare Disease and Orphan Drugs Journal, Год журнала: 2024, Номер 3(4)

Опубликована: Окт. 18, 2024

Язык: Английский