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

다국어 초록 (Multilingual 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.

참고문헌 (Reference)

• 1 윤규태 ; 장영환 ; 이선효 ; 이지혜 ; 양종오 ; 이은영 ; 홍세용, "유전자분석과 신장 조직검사를 통해 진단된 Fabry 병 2예" 대한내과학회 89 (89): 571-575, 2015
• 2 Elliott PM, "Why systematic literature reviews in Fabry disease should include all published evidence" 62 : 103702-, 2019
• 3 Schiffmann R, "Screening, diagnosis, and management of patients with Fabry disease : conclusions from a"Kidney Disease : Improving Global Outcomes"(KDIGO)Controversies Conference" 91 : 284-293, 2017
• 4 Fogo AB, "Scoring system for renal pathology in Fabry disease : report of the International Study Group of Fabry Nephropathy(ISGFN)" 25 : 2168-2177, 2010
• 5 Warnock DG, "Renal outcomes of agalsidase beta treatment for Fabry disease : role of proteinuria and timing of treatment initiation" 27 : 1042-1049, 2012
• 6 Biegstraaten M, "Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease : the European Fabry Working Group consensus document" 10 : 36-, 2015
• 7 김우식 ; 김현수 ; 신진호 ; 박종천 ; 유한욱 ; Toshihiro Takenaka ; Chuwa Tei, "Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy" 대한의학회 34 (34): 1-11, 2019
• 8 신정호 ; 김수현, "Pathologic findings of Fabry nephropathy: the pivotal role of kidney biopsy" 대한신장학회 40 (40): 508-511, 2021
• 9 Paim-Marques L, "Multidisciplinary management of Fabry disease : current perspectives" 15 : 485-495, 2022
• 10 장희준 ; Kwon Wook Joo ; 한승석, "Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease" 대한신장학회 38 (38): 250-252, 2019
• 11 Jung SE, "Hypohidrosis : an early clue in the diagnosis of Fabry disease" 40 : 444-445, 2015
• 12 Thurberg BL, "Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy" 62 : 1933-1946, 2002
• 13 Nowak A, "Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease" 123 : 148-153, 2018
• 14 Jaurretche S, "Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis" 39 : 294-300, 2019
• 15 김일영 ; 이현정 ; 전종근, "Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease" 대한신장학회 40 (40): 611-619, 2021
• 16 Colpart P, "Fabry nephropathy" 141 : 1127-1131, 2017
• 17 Muller C, "Fabry disease’s screening : results from the first French survey on nephrologists habits" 15 : 226-232, 2019
• 18 Kurschat CE, "Fabry disease-what cardiologists can learn from the nephrologist : a narrative review" 11 : 672-682, 2021
• 19 Ortiz A, "Fabry disease revisited : management and treatment recommendations for adult patients" 123 : 416-427, 2018
• 20 김지형 ; 한동훈 ; 박무용 ; 최수정 ; 김진국 ; 황승덕 ; 진소영, "Fabry disease previously diagnosed as Henoch- Schonlein purpura" 대한내과학회 30 (30): 925-927, 2015
• 21 Laney DA, "Fabry disease practice guidelines : recommendations of the National Society of Genetic Counselors" 22 : 555-564, 2013
• 22 Doheny D, "Fabry disease : prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017" 55 : 261-268, 2018
• 23 Eng CM, "Fabry disease : baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry" 30 : 184-192, 2007
• 24 Warnock DG, "Enzyme replacement therapy and Fabry nephropathy" 5 : 371-378, 2010
• 25 Choi JH, "Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey : underdiagnosis of late-onset phenotype" 96 : e7387-, 2017
• 26 Warnock DG, "Antiproteinuric therapy and Fabry nephropathy : factors associated with preserved kidney function during agalsidase-beta therapy" 52 : 860-866, 2015
• 27 Tøndel C, "Agalsidase benefits renal histology in young patients with Fabry disease" 24 : 137-148, 2013
• 28 West M, "Agalsidase alfa and kidney dysfunction in Fabry disease" 20 : 1132-1139, 2009
• 29 Korea Disease Control and Prevention Agency, "2022 Annual Report on the Rare Disease Patients in Korea" Korea Disease Control and Prevention Agency 2021