A questionnaire survey on the diagnosis and treatment of Fabry nephropathy in clinical practice

• Published in: Kidney research and clinical practice Vol. 42; no. 5; pp. 628 - 638
• Main 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, EunHui, Lee, Eun Young, Kwon, Young Joo
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Society of Nephrology 01.09.2023; 대한신장학회
• Subjects: biopsy; chronic renal insufficiency; fabry disease; kidney diseases; Original; surveys and questionnaire; therapeutics; 내과학; Fabry disease; Surveys and questionnaire; Nephropathy; Treatment; Biopsy; Chronic kidney diseases
• ISSN: 2211-9132; 2211-9140
• DOI: 10.23876/j.krcp.22.235

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. A questionnaire regarding the management of Fabry nephropathy was emailed to healthcare providers with the experience or ability to treat individuals with Fabry nephropathy. 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 globotriaosylceramide (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. 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.