ArticleKidney research and clinical practice2024
Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea.
Article in Kidney research and clinical practice, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study.Orphanet journal of rare diseases · 2025Article
- Fabry disease in the haemodialysis population: outcome of a UK screening study (SoFAH).BMC nephrology · 2025Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- Screening and diagnosis of Fabry disease in chronic kidney disease: the important role of globotriaosylsphingosine.Kidney research and clinical practice · 2024Article
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundFabry disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase (α-Gal A), affecting multiple organs including kidney. In this study, we aimed to determine the prevalence of FD in patients with chronic kidney disease (CKD) including those on renal replacement therapy in Korea.
methodsThis is a national, multicenter, observational study performed between August 24, 2017 and February 28, 2020. Patients with the presence of proteinuria or treated on dialysis were screened by measuring the α-Gal A enzyme activity using either dried blood spot or whole blood, and plasma globotriaosylsphingosine (lyso-GL3) concentration. A GLA gene analysis was performed in patients with low α-Gal A enzyme activity or increased plasma lyso-GL3 concentration.
resultsOf 897 screened patients, 405 (45.2%) were male and 279 (31.1%) were on dialysis. The α-Gal A enzyme activity was measured in 891 patients (99.3%), and plasma lyso-GL3 concentration was measured in all patients. Ten patients were eligible for a GLA gene analysis: eight with low α-Gal A enzyme activity and two with increased plasma lyso-GL3 concentration. The GLA mutations were analyzed in nine patients and one patient was found with a pathogenic mutation. Therefore, one patient was identified with FD, giving a prevalence of 0.1% (1 of 897) in this CKD population.
conclusionAlthough the prevalence of FD in the CKD population was low (0.1%), screening tests are crucial to detect potential diseases in patients with relatives who can benefit from early treatment.
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