少数族裔中Fabry病的诊断不足。

Underdiagnosis of Fabry disease in minority ethnic groups.

作者信息

Church Smith Claudia L, Roy Ashwin, Steeds Sarah, Tuzcuoglu Natalie, Wingrove Christopher, Aitchison Katherine, Radford Claire, Boyes Laura A, Stewart Fiona, Geberhiwot Tarekegn, Steeds Richard P

机构信息

Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

Institute of Cardiovascular Sciences, University of Birmingham, Birmingham, UK.

出版信息

Mol Genet Metab Rep. 2025 Jan 17;42:101194. doi: 10.1016/j.ymgmr.2025.101194. eCollection 2025 Mar.

DOI:10.1016/j.ymgmr.2025.101194

PMID:39897472

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11787037/

Abstract

Fabry disease (FD) is a rare, pan ethnic X-linked disorder. We explored ethnic representation in our service and a national patient organisation. An audit of the University Hospitals Birmingham FD cohort revealed that 9 % of index cases are minority ethnic, compared to 18.3 % of the population of England and Wales and 51.4 % of the Birmingham population. A similar split was observed in a national patient cohort, highlighting a need to identify the reasons for under-representation.

摘要

法布里病（FD）是一种罕见的、泛种族的X连锁疾病。我们研究了我们的服务机构和一个全国性患者组织中的种族代表性情况。对伯明翰大学医院的法布里病队列进行的一项审计显示，9%的索引病例为少数族裔，而英格兰和威尔士人口中这一比例为18.3%，伯明翰人口中为51.4%。在一个全国性患者队列中也观察到了类似的差异，这凸显了找出代表性不足原因的必要性。