지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.12
- 수록면
- 611 - 619 (9page)
- DOI
- 10.23876/j.krcp.21.056
이용수
초록· 키워드
오류제보하기
Background: In Fabry disease, the presence of globotriaosylceramide (GL3) deposits in various kidney cells leads to progressive re- nal dysfunction. However, kidney biopsy studies in patients with Fabry disease are limited. In the present study, the pathologic find- ings of patients with Fabry nephropathy receiving enzyme replacement therapy (ERT) and untreated patients without albuminuria were investigated.
Methods: The present study included 15 patients with Fabry disease who underwent renal biopsy while receiving ERT (group 1: n = 9, age 19?58 years, two males and seven females) or before ERT initiation (group 2: n = 6, age 11?66 years, one male and five fe- males). All patients in group 2 were normoalbuminuric.
Results: Group 1 showed improved clinical symptoms, such as acroparesthesia. The ERT duration was 1.2 to 8 years and seven of the nine patients showed GL3 deposits in various kidney cells and segmental foot process effacement (FPE) of podocytes. GL3 de- posits and FPE were not observed in the two remaining patients in group 1. Group 2 showed segmental FPE and podocyte GL3 de- posits. Most patients in group 2 also showed GL3 deposits in the mesangium, endothelium, or tubular epithelium.
Conclusion: The study results showed that segmental FPE and GL3 deposits can persist in Fabry nephropathy despite ERT. In addi- tion, segmental FPE and GL3 deposits were observed in various kidney cells in normoalbuminuric patients with Fabry disease. These findings indicated that kidney biopsies at baseline and follow-up evaluation of Fabry nephropathy are essential for timely ERT initiation and ERT response assessment.
목차
등록된 정보가 없습니다.
참고문헌 (28)
참고문헌 신청
Feriozzi S / 2012 / The effectiveness of longterm agalsidase alfa therapy in the treatment of Fabry nephropathy / Clin J Am Soc Nephrol 7:60~69
Capuano I / 2020 / Identifying Fabry patients in dialysis population : prevalence of GLA mutations by renal clinic screening, 1995-2019 / J Nephrol 33:569~581
장희준 / 2019 / Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease / Kidney Research and Clinical Practice 38(2):250~252
Najafian B / 2011 / Progressive podocyte injury and globotriaosylceramide(GL-3)accumulation in young patients with Fabry disease / Kidney Int 79:663~670
Germain DP / 2010 / Fabry disease / Orphanet J Rare Dis 5:30
Capuano I / 2020 / Identifying Fabry patients in dialysis population : prevalence of GLA mutations by renal clinic screening, 1995-2019 / J Nephrol 33:569~581
장희준 / 2019 / Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease / Kidney Research and Clinical Practice 38(2):250~252
Najafian B / 2011 / Progressive podocyte injury and globotriaosylceramide(GL-3)accumulation in young patients with Fabry disease / Kidney Int 79:663~670
Germain DP / 2010 / Fabry disease / Orphanet J Rare Dis 5:30
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