日本滋贺县安德森-法布里病患者的临床特征及跨部门合作

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-05-10 DOI:10.1016/j.ymgmr.2025.101227

Daisuke Tomioka , Shunsuke Takagi , Fumiko Nakazeki , Ayano Takagi , Ryosuke Fukazawa , Ueno Yoshiki , Yu Mimura , Koichi Kato , Hiroshi Sakai , Kosuke Yamahara , Shinji Kume , Yoshihisa Nakagawa

{"title":"日本滋贺县安德森-法布里病患者的临床特征及跨部门合作","authors":"Daisuke Tomioka , Shunsuke Takagi , Fumiko Nakazeki , Ayano Takagi , Ryosuke Fukazawa , Ueno Yoshiki , Yu Mimura , Koichi Kato , Hiroshi Sakai , Kosuke Yamahara , Shinji Kume , Yoshihisa Nakagawa","doi":"10.1016/j.ymgmr.2025.101227","DOIUrl":null,"url":null,"abstract":"<div><h3>Purpose</h3><div>Anderson–Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A (<em>GLA</em>). The purpose of this study was to investigate the clinical characteristics of patients with AFD and the types of medical specialists necessary to manage them in a prefecture with a population of 1.48 million.</div></div><div><h3>Method</h3><div>We included patients with <em>GLA</em> variants among patients diagnosed by genetic testing with AFD and managed at Shiga University of Medical Science from April 2010 and May 2024. The clinical information and data of the specialists engaged for the management of the patients were obtained from their medical records.</div></div><div><h3>Result</h3><div>In this study, 14 individuals from five families (four males, 29 %) were diagnosed with AFD. The age at diagnosis ranged from 9 to 68 years (mean age 38 ± 20 years). The estimated prevalence in the prefecture was 0.99 per 100,000 people, 0.57 per 100,000 males, and 1.39 per 100,000 females. They received treatment by specialists from eight different departments, and the average number of departments in which they were managed was 3.3 overall, 4.2 for males, and 2.9 for females.</div></div><div><h3>Conclusion</h3><div>The family history and genetic testing are useful for the precise diagnosis and treatment of patients with AFD. As such patients require interdisciplinary treatment, interdepartmental cooperation should be promoted for their systemic care.</div></div>","PeriodicalId":18814,"journal":{"name":"Molecular Genetics and Metabolism Reports","volume":"43 ","pages":"Article 101227"},"PeriodicalIF":1.8000,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan\",\"authors\":\"Daisuke Tomioka , Shunsuke Takagi , Fumiko Nakazeki , Ayano Takagi , Ryosuke Fukazawa , Ueno Yoshiki , Yu Mimura , Koichi Kato , Hiroshi Sakai , Kosuke Yamahara , Shinji Kume , Yoshihisa Nakagawa\",\"doi\":\"10.1016/j.ymgmr.2025.101227\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Purpose</h3><div>Anderson–Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A (<em>GLA</em>). The purpose of this study was to investigate the clinical characteristics of patients with AFD and the types of medical specialists necessary to manage them in a prefecture with a population of 1.48 million.</div></div><div><h3>Method</h3><div>We included patients with <em>GLA</em> variants among patients diagnosed by genetic testing with AFD and managed at Shiga University of Medical Science from April 2010 and May 2024. The clinical information and data of the specialists engaged for the management of the patients were obtained from their medical records.</div></div><div><h3>Result</h3><div>In this study, 14 individuals from five families (four males, 29 %) were diagnosed with AFD. The age at diagnosis ranged from 9 to 68 years (mean age 38 ± 20 years). The estimated prevalence in the prefecture was 0.99 per 100,000 people, 0.57 per 100,000 males, and 1.39 per 100,000 females. They received treatment by specialists from eight different departments, and the average number of departments in which they were managed was 3.3 overall, 4.2 for males, and 2.9 for females.</div></div><div><h3>Conclusion</h3><div>The family history and genetic testing are useful for the precise diagnosis and treatment of patients with AFD. As such patients require interdisciplinary treatment, interdepartmental cooperation should be promoted for their systemic care.</div></div>\",\"PeriodicalId\":18814,\"journal\":{\"name\":\"Molecular Genetics and Metabolism Reports\",\"volume\":\"43 \",\"pages\":\"Article 101227\"},\"PeriodicalIF\":1.8000,\"publicationDate\":\"2025-05-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Genetics and Metabolism Reports\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214426925000424\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Genetics and Metabolism Reports","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214426925000424","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

目的安德森-法布里病（AFD）是一种由α -半乳糖苷酶A （GLA）编码基因的致病性变异引起的x连锁溶酶体沉积病。本研究的目的是调查一个有148万人口的县的AFD患者的临床特征和管理他们所需的医学专家的类型。方法纳入2010年4月至2024年5月在滋贺医科大学进行的经基因检测诊断为AFD的患者中GLA变异患者。负责管理患者的专家的临床信息和数据是从他们的医疗记录中获得的。结果本研究共发现5个家族14例患者，其中男性4例，占29%。诊断年龄9 ~ 68岁，平均年龄38±20岁。据估计，该县的患病率为每10万人0.99人，每10万男性0.57人，每10万女性1.39人。他们接受了来自8个不同科室的专家治疗，他们被管理的平均科室总数为3.3个，男性为4.2个，女性为2.9个。结论家族史和基因检测有助于AFD患者的准确诊断和治疗。由于此类患者需要跨学科治疗，因此应促进跨部门合作，对其进行系统护理。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Clinical characteristics and interdepartmental collaboration for patients with Anderson–Fabry disease in Shiga Prefecture, Japan

Purpose

Anderson–Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A (GLA). The purpose of this study was to investigate the clinical characteristics of patients with AFD and the types of medical specialists necessary to manage them in a prefecture with a population of 1.48 million.

Method

We included patients with GLA variants among patients diagnosed by genetic testing with AFD and managed at Shiga University of Medical Science from April 2010 and May 2024. The clinical information and data of the specialists engaged for the management of the patients were obtained from their medical records.

Result

In this study, 14 individuals from five families (four males, 29 %) were diagnosed with AFD. The age at diagnosis ranged from 9 to 68 years (mean age 38 ± 20 years). The estimated prevalence in the prefecture was 0.99 per 100,000 people, 0.57 per 100,000 males, and 1.39 per 100,000 females. They received treatment by specialists from eight different departments, and the average number of departments in which they were managed was 3.3 overall, 4.2 for males, and 2.9 for females.

Conclusion

The family history and genetic testing are useful for the precise diagnosis and treatment of patients with AFD. As such patients require interdisciplinary treatment, interdepartmental cooperation should be promoted for their systemic care.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.