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Traditional and Proteomic Biomarkers of Autosomal Dominant Polycystic Kidney Disease (ADPKD)

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General Methods in Biomarker Research and their Applications

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Abstract

Autosomal dominant polycystic kidney disease (ADPKD), the most common hereditary renal disease , is characterized by continuous and progressive growth of innumerable cysts in both kidneys. Despite gross enlargement of the kidneys, renal function is usually maintained within the normal range for decades through hyperfiltration of the remaining nephrons. Once renal function starts to decline, it usually deteriorates rapidly resulting in end-stage renal disease (ESRD) within a few years. Until recently, the treatment of ADPKD has been exclusively symptomatic, but based on accumulating mechanistic insights, several potential targeted pharmacological therapeutic approaches have now been emerging during the last decade. This development has led to an urgent need for biomarkers to allow early detection of patients at risk for accelerated progression and as surrogate markers for interventional trials. Total kidney volume (TKV) assessed by magnetic resonance imaging (MRI) or computed tomography (CT) is the most extensively studied measure of disease severity and correlates with future renal function loss. In addition, a few biochemical markers as well as proteomic and metabolomic patterns have been described that characterize patients with ADPKD. While some of these markers are promising, their use to reliably predict prognosis has yet to be proven. A major obstacle to the discovery and validation of biomarkers for ADPKD is the slowly progressive nature of the disease and the still limited follow-up information on well-characterized patient cohorts. As longitudinal information on well-characterized patients continues to accumulate, the discovery and validation of disease progression markers will be greatly facilitated. This chapter summarizes both established progression markers of ADPKD (i.e., kidney and cyst volume) and recently used approaches to the discovery of novel biochemical markers and discusses general aspects relevant to biomarker discovery for ADPKD.

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Abbreviations

ADPKD:

Autosomal Dominant Polycystic Kidney Disease

CKD:

Chronic Kidney Disease

CT:

Computed Tomography

ESRD:

End-stage Renal Disease

GFR:

Glomerular Filtration Rate

htTKV:

Height-Adjusted Total Kidney Volume

MRI:

Magnetic Resonance Imaging

RCT:

Randomized Controlled Trials

SVM:

Support Vector Machine

TCV:

Total Cyst Volume

TKV:

Total Kidney Volume

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Authors and Affiliations

  1. Division of Nephrology, University Hospital Zürich, Rämistrasse 100, 8091, Zürich, Switzerland

    Andreas D. Kistler

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  1. Andreas D. Kistler
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Correspondence to Andreas D. Kistler .

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Editors and Affiliations

  1. Diabetes & Nutritional Sciences Division, King's College, London, United Kingdom

    Victor R. Preedy

  2. Department of Biomedical Sciences, Faculty of Science and Technology, University of Westminster, London, United Kingdom

    Vinood B. Patel

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Kistler, A.D. (2014). Traditional and Proteomic Biomarkers of Autosomal Dominant Polycystic Kidney Disease (ADPKD). In: Preedy, V., Patel, V. (eds) General Methods in Biomarker Research and their Applications. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-7740-8_48-1

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  • DOI: https://doi.org/10.1007/978-94-007-7740-8_48-1

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  • Online ISBN: 978-94-007-7740-8

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