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Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI

  • Research Report
  • Chapter
  • First Online:
JIMD Reports, Volume 25

Part of the book series: JIMD Reports ((JIMD,volume 25))

Abstract

Objective: Lysinuric protein intolerance (LPI) is a rare autosomal recessive disorder affecting the transport of cationic amino acids. It has previously been shown that approximately one third of the Finnish LPI patients have impaired renal function. The aim of this study was to analyse in detail urine beta2-microglobulin values, renal dysfunction, oral l-citrulline doses and plasma citrulline concentrations in Finnish LPI patients.

Methods and results: Of the 41 Finnish LPI patients, 56% had proteinuria and 53% hematuria. Mean plasma creatinine concentration was elevated in 48%, serum cystatin C in 62%, and urine beta2-microglobulin in 90% of the patients. Seventeen per cent of the patients developed ESRD, and five of them received a kidney transplant.

l-citrulline doses and fasting plasma citrulline concentrations were similar in adult LPI patients with decreased and normal GFR (mean ± SD 79.5 ± 29.2 vs. 82.4 ± 21.9 mg/kg/day, P = 0.619, and 80.3 ± 20.1 vs. 64.8 ± 23.0 μmol/l, P = 0.362, respectively).

Conclusions: Urine beta2-microglobulin is a sensitive early marker of renal involvement, and it should be monitored regularly in LPI patients. Weight-based oral l-citrulline doses and plasma citrulline concentrations were not associated with renal function. LPI patients with ESRD were successfully treated with dialysis and kidney transplantation.

Competing interests: None declared

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Abbreviations

CKD-EPI:

The Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equation

ESRD:

End-stage renal disease

GFR:

Glomerular filtration rate

LPI:

Lysinuric protein intolerance

MDRD:

Modification of diet in renal disease

SLC7A7:

Solute carrier family 7, member 7

y+LAT-1:

y+l amino acid transporter-1

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Acknowledgements

We thank Tero Vahlberg for help in the analysis of the l-citrulline doses.

Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Turku, Turku, Finland

    Mari Kärki & Kirsti Näntö-Salonen

  2. Department of Pediatrics and Physiology, University of Turku, Turku, Finland

    Harri Niinikoski

  3. Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland

    Laura M. Tanner

Authors
  1. Mari Kärki
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  2. Kirsti Näntö-Salonen
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  3. Harri Niinikoski
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  4. Laura M. Tanner
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Corresponding author

Correspondence to Mari Kärki .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Re, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Baden-Württemberg, Germany

    Verena Peters

Additional information

Communicated by: Johannes Häberle

Appendices

Synopsis

Urine beta-2-microglobulin is an early marker of renal complications affecting the majority of Finnish LPI patients.

Compliance with Ethics Guidelines

Conflict of Interest

Mari Kärki declares that she has no conflicts of interest.

Laura M. Tanner declares that she has no conflicts of interest.

Harri Niinikoski declares that he has no conflicts of interest.

Kirsti Näntö-Salonen declares that she has no conflicts of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Details of the Contributions of Individual Authors

Mari Kärki has been responsible for collecting and analysing the data and writing the manuscript.

Laura M. Tanner has been responsible for planning the present study design as well as drafting the manuscript.

Harri Niinikoski has been responsible for examining and treating the study subjects as well as drafting the manuscript.

Kirsti Näntö-Salonen has been responsible for examining and treating the study subjects, planning the present study design as well as drafting the manuscript.

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Kärki, M., Näntö-Salonen, K., Niinikoski, H., Tanner, L.M. (2015). Urine Beta2-Microglobulin Is an Early Marker of Renal Involvement in LPI. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 25. JIMD Reports, vol 25. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_465

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  • DOI: https://doi.org/10.1007/8904_2015_465

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  • Print ISBN: 978-3-662-49667-1

  • Online ISBN: 978-3-662-49668-8

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