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Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease

  • Genitourinary Disorders
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Abstract

Cystic kidney diseases (CKDs) are a clinically and genetically heterogeneous group of disorders characterized by progressive fibrocystic renal and hepatobiliary changes. Recent findings have proven the cystogenic process to be compatible with cellular dedifferentiation, i. e. increased apoptosis and proliferation rates, altered protein sorting and secretory characteristics, as well as disorganization of the extracellular matrix. Compelling evidence suggests that cilia play a central pathogenic role and most cystic kidney disorders converge into a common pathogenic pathway. Recently, several promising trials have further extended our understanding of the pathophysiology of CKD and may have the potential for rational personalized therapies in future years. This review aims to summarize the current state of knowledge of the structure and function of proteins underlying polycystic kidney disease, to explore the clinical consequences of changes in respective genes, and to discuss potential therapeutic approaches.

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Acknowledgements

This work was supported by the Deutsche Forschungsgemeinschaft (DFG) [KZ], the German-Israeli Foundation (GIF) [Carsten Bergmann], and the START program of the medical faculty of Aachen University (Carsten Bergmann). Carsten Bergmann is a recipient of a scholarship of the German Kidney Foundation (Deutsche Nierenstiftung).

The authors have no conflicts of interest that are directly relevant to the contents of this manuscript

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  1. Department of Human Genetics, Aachen University, Pauwelsstraße 30, Aachen, D-52074, Germany

    Carsten Bergmann, Valeska Frank, Fabian Küpper, Dirk Kamitz, Jens Hanten, Peter Berges, Silke Mager, Jan Senderek & Klaus Zerres

  2. Max-Planck-Institute for Biochemistry, Martinsried, Germany

    Markus Moser

  3. Department of Pathology, University of Bonn, Bonn, Germany

    Jutta Kirfel & Reinhard Büttner

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  1. Carsten Bergmann
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Correspondence to Carsten Bergmann.

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Bergmann, C., Frank, V., Küpper, F. et al. Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease. Mol Diag Ther 10, 163–174 (2006). https://doi.org/10.1007/BF03256455

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