0100477459

open access

Accepted Manuscript

Screening for Fabry disease among male patients on hemodialysis in Awaji Island

English (英語)

Therapeutic Apheresis and Dialysis

26(6)

1187-1192

John Wiley & Sons

2022-12

2023-04-01

Fabry disease (FD) manifests decreased α-galactosidase A (α-Gal A) activity and multiorgan damage. There are some undiagnosed cases of the condition among patients on dialysis. The prevalence of FD may also vary with the region. Among 227 male patients undergoing maintenance hemodialysis in Awaji Island, a remote island in Japan, 201 (88.5%) were included in this study. Patients with α-Gal A activity <5.0 pmol/h/disk proceeded to secondary screening. Patients with positive secondary screening underwent further genetic analysis. The number of patients with a family history of cardiac, cerebrovascular, and kidney diseases was 31 (15.4%), 23 (11.4%), and 31 (15.4%) patients, respectively. Although three patients (1.5%) had low α-Gal A activity, none of them was positive in the secondary screening. We could not identify any male hemodialysis patient with FD in Awaji Island, even though some patients had a family history of kidney and cardiovascular diseases.

α-galactosidase A activity

学術雑誌論文

This is the peer reviewed version of the following article: [Shimizu, M, Fujii, H, Kono, K, Watanabe, K, Goto, S, Nozu, K, et al. Screening for Fabry disease among male patients on hemodialysis in Awaji Island. Ther Apher Dial. 2022; 26: 1187–1192.], which has been published in final form at [https://doi.org/10.1111/1744-9987.13834]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.