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Abstract: TH-PO735

Fabry Nephropathy: Transcriptome Sequencing of Microdissected Renal Compartments from Archival Kidney Biopsies at Baseline, and After 5 and 10 Years of Enzyme Replacement Therapy

Session Information

Category: Genetic Diseases of the Kidney

  • 1002 Genetic Diseases of the Kidney: Non-Cystic


  • Eikrem, Oystein, University of Bergen, Bergen, Norway
  • Strauss, Philipp, University of Bergen, Bergen, Norway
  • Sekulic, Miroslav, Brigham and Women's Hospital , Boston, Massachusetts, United States
  • Tøndel, Camilla, Haukeland University Hospital, Bergen, Norway
  • Flatberg, Arnar, Norwegian University of Science and Technology, Trondheim, Norway
  • Skrunes, Rannveig, Haukeland University Hospital, Bergen, Norway
  • Landolt, Lea, University of Bergen, Bergen, Norway
  • Babickova, Janka, University of Bergen, Bergen, Norway
  • Leh, Sabine, Haukeland University Hospital, Bergen, Norway
  • Scherer, Andreas, Spheromics, Kontiolahti, Finland
  • Svarstad, Einar, Haukeland University Hospital, Bergen, Norway
  • Marti, Hans-Peter, University of Bergen, Bergen, Norway

The present study exploited next generation mRNA sequencing from kidney biopsies of Fabry patients with a classical phenotype


Kidney biopsies (n=15) were obtained with a 16G needle from Fabry patients (n=5) from 2003-2014. Median patient age at baseline biopsy was 18 years (7-30 y). Control biopsies from peri-tumorous tissue of renal cancer patients (n=32). Formalin-fixed, paraffin-embedded (FFPE) kidney biopsies were obtained: a) baseline prior to enzyme replacement therapy (ERT; n=5), b) after 5y of ERT (n=5), and c) 8-10y of ERT (n=5). Total RNA was extracted from laser-captured, microdissected glomerular, proximal tubular, distal tubular and arterial cross-sections (High Pure FFPET RNA extraction kit; Roche). cDNA libraries were prepared using the TruSeq RNA Access Library Prep Kit® (Illumina) and sequenced on an Illumina HiSeq 2500/HiSeq 4000 instrument


We present the results of the first 42 samples of a larger ongoing series. Several hundred mRNAs were differentially expressed (p-value <0.05, abs. fold change >2) between normal controls and Fabry baseline samples, and between the baseline samples and the two different treatment time points. The samples segregated completely within their own compartment (Fig. 1) in principle component analysis. Gene Set Enrichment Analysis in the glomerular compartment demonstrated enriched gene sets of extracellular matrix, EMT, fibrosis, and immune response in the 10 year biopsies compared to baseline (p<0.05) despite ERT. Several key regulatory inflammatory genes were found to be upregulated in all compartments


NGS is feasible in archival Fabry disease kidney biopsies, expanding the potential utility of kidney biopsies to detect markers of Fabry nephropathy, chronic kidney disease and therapeutic targets


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