A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practiceopen access
- Authors
- Choi, Soo Jeong; Kim, Su Hyun; Lee, Min Sung; Park, Samel; Cho, Eunjung; Han, Seung Seok; Koh, Eun Sil; Chung, Byung Ha; Jeong, Kyung Hwan; Bae, Eun Hui; Lee, Eun Young; Kwon, Young Joo
- Issue Date
- Sep-2023
- Publisher
- 대한신장학회
- Keywords
- Biopsy; Chronic renal insufficiency; Fabry disease; Kidney diseases; Surveys and questionnaire; Therapeutics
- Citation
- Kidney Research and Clinical Practice, v.42, no.5, pp 628 - 638
- Pages
- 11
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- Kidney Research and Clinical Practice
- Volume
- 42
- Number
- 5
- Start Page
- 628
- End Page
- 638
- URI
- https://scholarworks.korea.ac.kr/kumedicine/handle/2021.sw.kumedicine/65103
- DOI
- 10.23876/j.krcp.22.235
- ISSN
- 2211-9132
2211-9140
- Abstract
- Background: Fabry nephropathy is characterized by a deficiency of lysosomal alpha-galactosidase A, which results in proteinuria and kidney disease. The ineffectiveness of enzyme replacement therapy (ERT) for severe kidney failure highlights the need for early detec-tion and meaningful markers. However, because the diagnosis and treatment of Fabry disease can vary according to the expertise of physicians, we evaluated the opinions of Korean specialists. Methods: A questionnaire regarding the management of Fabry nephropathy was emailed to healthcare providers with the experience or ability to treat individuals with Fabry nephropathy. Results: Of the 70 experts who responded to the survey, 43 were nephrologists, and 64.3% of the respondents reported having treat-ed patients with Fabry disease. Pediatricians are treating primarily patients with classic types of the disease, while nephrologists and cardiologists are treating more patients with variant types. Only 40.7% of non-nephrologists agreed that a kidney biopsy was required at the time of diagnosis, compared with 81.4% of nephrologists. Thirty-eight of 70 respondents (54.3%) reported measuring glo-botriaosylsphingosine (lyso-Gb3) as a biomarker. The most common period to measure lyso-Gb3 was at the time of diagnosis, fol-lowed by after ERT, before ERT, and at screening. For the stage at which ERT should begin, microalbuminuria and proteinuria were chosen by 51.8% and 28.6% of respondents, respectively. Conclusion: Nephrologists are more likely to treat variant Fabry disease rather than classic cases, and they agree that ERT should be initiated early in Fabry nephropathy, using lyso-Gb3 as a biomarker.
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