Kidney Res Clin Pract.
2023 Sep;42(5):628-638. 10.23876/j.krcp.22.235.
A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice
- Affiliations
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- 1Department of Internal Medicine, Soonchunhyang University College of Medicine, Bucheon, Republic of Korea
- 2Department of Internal Medicine, Chung-Ang University Gwangmyeong Hospital, Chung-Ang University College of Medicine, Gwangmyeong, Republic of Korea
- 3Department of Internal Medicine, Ewha Womans University Medical Center, Seoul, Republic of Korea
- 4Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Republic of Korea
- 5Department of Internal Medicine, Korea University Medical Center, Seoul, Republic of Korea
- 6Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Republic of Kore
- 7Department of Internal Medicine, The Catholic University of Korea, Yeouido St. Mary’s Hospital, Seoul, Republic of Korea
- 8Department of Internal Medicine, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea
- 9Department of Internal Medicine, Kyung Hee University College of Medicine, Seoul, Republic of Korea
- 10Department of Internal Medicine, Chonnam National University Medical School, Gwangju, Republic of Korea
- KMID: 2547134
- DOI: http://doi.org/10.23876/j.krcp.22.235
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 detection 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 treated 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 globotriaosylsphingosine (lyso-Gb3) as a biomarker. The most common period to measure lyso-Gb3 was at the time of diagnosis, followed 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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