少数民族法布里病诊断不足。

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-01-17 DOI:10.1016/j.ymgmr.2025.101194

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

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引用次数: 0

摘要

法布里病（FD）是一种罕见的泛种族x连锁疾病。我们探索了在我们的服务和全国病人组织中有种族代表性。对伯明翰大学医院FD队列的审计显示，9%的指标病例是少数民族，而英格兰和威尔士人口的这一比例为18.3%，伯明翰人口的这一比例为51.4%。在全国患者队列中也观察到类似的分裂，强调需要确定代表性不足的原因。

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Underdiagnosis of Fabry disease in minority ethnic groups

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.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.