Incidental diagnosis of Fabry disease by detecting mulberry bodies in a Bangladeshi male with infertility and residing in Japan: a case report highlighting clinical and economic challenges

Fabry disease is likely to be underdiagnosed in developing countries because of limited medical resources and awareness. Although early detection has improved in developed countries, high treatment costs remain a challenge. This case highlights the need to balance equitable access to treatment for rare disorders, such as Fabry disease, with the maintenance of a sustainable healthcare system, regardless of the patient's nationality or socioeconomic status.

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Publication Details

Journal
Journal of Rural Medicine
Published
2025-01-01
DOI
https://doi.org/10.2185/jrm.2024-050
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

Incidental diagnosis of Fabry disease by detecting mulberry bodies in a Bangladeshi male with infertility and residing in Japan: a case report highlighting clinical and economic challenges

Akiko Kawasaki, Kosuke Kojo, Miwa Arita, Chie Yokoyama et al.
Journal of Rural Medicine
Lysosomal Storage Disorders Research
article

Incidental diagnosis of Fabry disease by detecting mulberry bodies in a Bangladeshi male with infertility and residing in Japan: a case report highlighting clinical and economic challenges

Akiko Kawasaki, Kosuke Kojo, Miwa Arita, Chie Yokoyama, Kaori Mase, Hisato Suzuki, Yu Yamada
article en

Abstract

Fabry disease is likely to be underdiagnosed in developing countries because of limited medical resources and awareness. Although early detection has improved in developed countries, high treatment costs remain a challenge. This case highlights the need to balance equitable access to treatment for rare disorders, such as Fabry disease, with the maintenance of a sustainable healthcare system, regardless of the patient's nationality or socioeconomic status.

Journal of Rural MedicineVol. 20(3)
University of Tsukuba (JP), Keio University (JP), University of Tsukuba Hospital (JP)
Gender equality
Openalex Percentile: Top 80%
Lysosomal Storage Disorders Research
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