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Abstract: PO1313

Twenty-Year Renal Prognosis in Patients with Fabry Disease Who Underwent Enzyme Replacement Therapy

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Miura, Akane, Tokyo Jikeikai Ika Daigaku, Minato-ku, Tokyo, Japan
  • Okabe, Masahiro, Tokyo Jikeikai Ika Daigaku, Minato-ku, Tokyo, Japan
  • Haruhara, Kotaro, Tokyo Jikeikai Ika Daigaku, Minato-ku, Tokyo, Japan
  • Yamamoto, Izumi, Tokyo Jikeikai Ika Daigaku, Minato-ku, Tokyo, Japan
  • Tsuboi, Nobuo, Tokyo Jikeikai Ika Daigaku, Minato-ku, Tokyo, Japan
  • Yokoo, Takashi, Tokyo Jikeikai Ika Daigaku, Minato-ku, Tokyo, Japan

Group or Team Name

  • Division of Nephrology and Hypertension, Department of Internal Medicine

The relationship between long-term renal prognosis and renal histopathology after enzyme replacement therapy (ERT) for Fabry disease (FD) has not been fully investigated.


Nine patients with FD from our hospital who had participated in a Japanese phase 2 study (August 2000–May 2001) on agalsidase β were eligible for this case-control study. They underwent repeated renal biopsy (before and six months after agalsidase β treatment), and the intra-renal amount of globotriaosylceramide (GL3) was measured at the same time points. Clinicopathological features were compared between the groups with or without developing end-stage kidney disease (ESKD) .


Seven patients were included in this study, because two were lost to follow-up. All were males, with a median age at the start of treatment of 30 [quartile 24.5, 31.5] years, and median serum creatinine level (s-Cr) of 1.1 [1.0, 1.2] mg/dL. The podocyte score (International Study Group of Fabry Nephropathy score system) improved in all patients after ERT from that evaluated before ERT.Interstitial fibrosis/tubular atrophy (IF/TA) worsened in three patients. The proportion of foamed tubules improved in five patients. Intra-renal accumulation of GL3 decreased six months after ERT in all patients. All patients continued to receive agalsidase β or agalsidase α after the phase II study. While four patients developed ESKD (median 6.7 years), three patients showed no exacerbation of renal function. The s-Cr level, age, and urinary protein excretion at the start of ERT were higher in the ESKD group. The decrease in the intra-renal accumulation of GL3 was not significantly different between the two groups, but the proportion of foamed tubules in the first biopsy and the degree of IF/TA in the second biopsy were higher in the ESKD group than in the non-ESKD group.


This study suggests that tubulointerstitial injury has a crucial role in the determination of renal prognosis and that earlier diagnosis and intervention in patients with FD may improve the renal prognosis. Further studies are needed on the relationship between tubulointerstitial injury and GL3 accumulation.