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Journal of Nephrology

, Volume 28, Issue 6, pp 679–689 | Cite as

Interfering parameters in the determination of urinary globotriaosylceramide (Gb3) in patients with chronic kidney disease

  • Martina GagglEmail author
  • Marlene Hofer
  • Stefanie Weidner
  • Julia Kleinert
  • Günter Fauler
  • Manfred Wallner
  • Peter Kotanko
  • Eduard Paschke
  • Gere Sunder-Plassmann
Original Article

Abstract

Introduction

Globotriaosylceramide (Gb3, CD77) represents a pivotal part of the cell membrane. Measuring the urinary Gb3 content can be used to screen patients with chronic kidney disease (CKD) for Fabry disease, a disorder caused by hampered Gb3 degradation. However, little is known about factors influencing urinary Gb3 excretion other than Fabry disease. The aim of the present study was to identify routine diagnostic parameters as predictors of urinary Gb3 excretion in patients with CKD.

Methods

Our study included 609 subjects with CKD stage I–V. We analyzed the influence of age, gender, renal function, urinary cell content and chemical characteristics on urinary Gb3 concentrations (total Gb3, Gb3-24 isoform, and Gb3-24:18 isoform ratio), determined by direct electrospray ionization mass spectrometry.

Results

In 609 subjects the median total urinary Gb3 was 233 ng/mg and the Gb3-24:18 isoform ratio was 1.2. Twenty-one patients, none of whom had Fabry disease, had a Gb3-24:18 isoform ratio ≥2.3. Females excreted a higher total amount of Gb3, but the Gb3-24:18 isoform ratio was comparable to males. Renal function and age had no influence on total Gb3, Gb3 isoforms or the ratio. Only a distinct load of bacteria and leukocytes was associated with an increased Gb3 excretion. Urinary leukocytes, erythrocytes, bacteria, or protein content did not affect the Gb3-24:18 isoform ratio.

Conclusion

The Gb3-24:18 isoform ratio is unaffected by several potential influencing variables and may thus be applied for screening for Fabry disease in unselected cohorts of patients presenting with CKD.

Keywords

Chronic kidney disease Fabry disease Globotriaosylceramide Lysosomal storage disorder 

Notes

Acknowledgments

We acknowledge the help of Miriam Kunst, Ingrid Jachimow, Sylvia Taxer, Karin Voith, Danica Doric, Maria Villaluz, Gabi Rath, Violeta Tanacovic in conducting the study. Laboratory analyses were supported by an unrestricted grant from Sanofi-Genzyme (Sanofi-Genzyme Austria G.m.b.H., Vienna, Austria).

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The ethics committee of the Medical University of Vienna approved the study.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Supplementary material

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Supplementary material 1 (TIFF 4156 kb)
40620_2015_193_MOESM2_ESM.tif (18.2 mb)
Supplementary material 2 (TIFF 18648 kb)

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Copyright information

© Italian Society of Nephrology 2015

Authors and Affiliations

  • Martina Gaggl
    • 1
    Email author
  • Marlene Hofer
    • 1
  • Stefanie Weidner
    • 1
  • Julia Kleinert
    • 1
  • Günter Fauler
    • 2
  • Manfred Wallner
    • 3
  • Peter Kotanko
    • 4
  • Eduard Paschke
    • 5
  • Gere Sunder-Plassmann
    • 1
  1. 1.Department of Medicine III, Division of Nephrology and DialysisMedical University ViennaViennaAustria
  2. 2.Clinical Institute of Medical and Chemical Laboratory DiagnosticsMedical University GrazGrazAustria
  3. 3.Department of Internal Medicine IV, Section of NephrologyKlinikum Wels-GrieskirchenWelsAustria
  4. 4.Renal Research InstituteNew YorkUSA
  5. 5.Department of PediatricsMedical University GrazGrazAustria

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