Evidence map›Paper›PMID 40475330›Full record

ArticleMolecular genetics and metabolism reports2025

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

Daisuke Tomioka, Shunsuke Takagi, Fumiko Nakazeki, Ayano Takagi, Ryosuke Fukazawa, Ueno Yoshiki, Yu Mimura, Koichi Kato, Hiroshi Sakai, Kosuke Yamahara and 2 more

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Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Daisuke TomiokaDepartment of Cardiology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.
Shunsuke TakagiDepartment of Cardiology, Koto Memorial Hospital, 2-1, Hiramatsu-cho, Higashiomi, Shiga 527-0134, Japan.
Fumiko NakazekiDepartment of Cardiology, Otsu Red Cross Hospital, 1-1-35, Nagara-cho, Otsu, Shiga 520-0511, Japan.
Ayano TakagiDepartment of Nephrology, Kohka Public Hospital, 1256, Matsuo, Kohka, Shiga 528-0074, Japan.
Ryosuke FukazawaDepartment of Neurology, University Hospital, Kyoto Prefectural University of Medicine, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan.
Ueno YoshikiDepartment of Cardiology, Nagahama Red Cross Hospital, 12-7, Miyamae-cho, Nagahama, Shiga 526-0053, Japan.
Yu MimuraDepartment of Pediatrics, Toyosato Hospital, Toyosato-cho, Inukami-gun, Shiga, 529-1168, Japan.
Koichi KatoDepartment of Cardiology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.
Hiroshi SakaiDepartment of Cardiology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.
Kosuke YamaharaDepartment of Diabetes, Endocrinology and Nephrology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.
Shinji KumeDepartment of Diabetes, Endocrinology and Nephrology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.
Yoshihisa NakagawaDepartment of Cardiology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu, Shiga 520-0823, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Anderson-Fabry disease (AFD) is an X-linked lysosomal-storage disease caused by pathogenic variants in the gene encoding alpha-galactosidase A ( Method: We included patients with 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.

Indexed as

Anderson–Fabry diseaseGenetic testingInterdepartmental collaborationPrevalence

Identifiers

PMID40475330
PMCPMC12139013

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