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Abstract: SA-PO807

New Biomarkers to Quantify Fabry Disease Activity

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic


  • Ozcan, Seyda Gul, Istanbul Universitesi-Cerrahpasa, Istanbul, Istanbul, Turkey
  • Eren, Necmi, Kocaeli Universitesi Tip Fakultesi, Izmit, Kocaeli, Turkey
  • Dincer, Mevlut Tamer, Istanbul Universitesi-Cerrahpasa, Istanbul, Istanbul, Turkey
  • Ergul, Metin, Kocaeli Universitesi Tip Fakultesi, Izmit, Kocaeli, Turkey
  • Özer, Hakan, Necmettin Erbakan Universitesi Meram Tip Fakultesi Hastanesi, Konya, Turkey
  • Turkmen, Kultigin, Necmettin Erbakan Universitesi Meram Tip Fakultesi Hastanesi, Konya, Turkey
  • Trabulus, Sinan, Istanbul Universitesi-Cerrahpasa, Istanbul, Istanbul, Turkey
  • Seyahi, Nurhan, Istanbul Universitesi-Cerrahpasa, Istanbul, Istanbul, Turkey

Fabry disease (FD) is a rare, genetic lysosomal storage disease. Kidney and cardiac involvement are the leading causes of morbidity and mortality. Slow progression, genotypic and phenotypic heterogeneity prevents accurate prediction of the disease progression. We aimed to investigate the association of different biomarkers with FD activity for this unmet need.


In this case-control study, we examined 87 Fabry patients (FP), 46 CKD patients and 41 healthy controls (HC). Study subjects were recruited according to inclusion and exclusion criteria.We studied KIM-1, MCP-1, YKL-40, TNFR-1, TNFR-2, CysC with ELISA and eGFR was calculated based on cr and cr-Cys-C in all subjects. Statistical analysis was carried out using log transformed values of biomarker levels adjusted for age, sex and BMI.


Box plots of biomarker levels are shown in Figure 1. While there was no difference between FP and HC regarding eGFR(cr); eGFR(cr-CysC) was significantly lower in FP. KIM-1 was significantly higher in FP compared to HC. MCP-1 was significantly lower in FP compared to CKD patients, and it was significantly higher in FP with cardiac involvement than in those without cardiac involvement as in renal involvement. YKL-40 was significantly lower in FP without kidney involvement compared to both control groups, probably reflecting the effect of enzyme replacement therapy (ERT). KIM-1 and YKL-40 were correlated with Lyso Gb3 while MCP-1 was not.


MCP-1, KIM-1, YKL-40 and CysC seem to be useful markers for the management of FP, each associated with a different aspect of the disease. While KIM-1 appears to be independent of organ involvement, MCP-1 seems to be associated with kidney and cardiac involvement independent of Lyso Gb3. YKL-40 might be associated with response to ERT. Identification of new pathogenic pathways associated with those biomarkers, might contribute to new treatment approaches.


  • Government Support – Non-U.S.