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  • Review Article
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An approach to cystic kidney diseases: the clinician's view

Nature Reviews Nephrology volume 10, pages 687–699 (2014)Cite this article

Subjects

Key Points

  • Cystic kidney diseases are multisystemic disorders that present with distinct extrarenal manifestations

  • Cystic kidney diseases are regarded as ciliopathies, since almost all of the >70 different genes implicated in these diseases have products that have been linked to the biology and function of primary cilia

  • The most prevalent cystic kidney disease in adulthood is autosomal dominant polycystic kidney disease

  • Diagnosis of cystic kidney diseases requires a thorough clinical workup, taking into account not only kidney size and cyst localization, but also extrarenal manifestations

  • The utility of genetic testing varies greatly between diseases; however, testing is generally warranted in cystic kidney diseases accompanied by renal tumours

  • New techniques such as next-generation sequencing will facilitate the genetic diagnosis of cystic kidney diseases

Abstract

Advances in molecular genetics have led to the identification of more than 70 different genes involved in the development of cystic kidney diseases. Most of these diseases are rare, and interpreting the resultant plethora of disease-causing mutations requires a methodical and meticulous approach to differential diagnosis. In this Review we discuss a clinical approach to the diagnosis of cystic kidney diseases in adults, for use by nephrologists. This approach is based upon a thorough clinical evaluation, which considers both kidney phenotype and extrarenal manifestations of the underlying disorder, in combination with genetic testing in selected patients. In our view, cystic kidney disease can (in the majority of patients) be reliably classified on the basis of clinical findings. We therefore propose that defining clinical situations to precipitate the initiation of genetic testing is mandatory and cost-effective. New techniques such as next-generation sequencing will facilitate the diagnosis of cystic kidney diseases in the future, increasing diagnostic safety in a subset of patients. In renal tumour syndromes, genetic testing is warranted.

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Figure 1: Diagnostic work-up of cystic kidney disease.
Figure 2: Imaging findings from patients with ADPKD and ARPKD.
Figure 3: Renal manifestations of rare cystic kidney diseases.
Figure 4: Extrarenal manifestations of rare cystic kidney diseases.

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Acknowledgements

R.-U.M. receives funding from the Deutsche Forschungsgemeinschaft (MU 3629/2-1). B.S. receives funding from the Deutsche Forschungsgemeinschaft SFB 832 and DFG SCHE 1562-2. T.B. receives funding from the Deutsche Forschungsgemeinschaft (BE2212) and the BMBF (Sybacol).

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Authors and Affiliations

  1. Department II of Internal Medicine and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Kerpener Straße 62, Cologne, 50397, Germany

    Christine E. Kurschat, Roman-Ulrich Müller, Bernhard Schermer & Thomas Benzing

  2. Department of Radiology, University of Cologne, Kerpener Straße 62, Cologne, 50397, Germany

    Mareike Franke & David Maintz

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  1. Christine E. Kurschat
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  2. Roman-Ulrich Müller
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Contributions

C.E.K., R.-U.M., M.F., D.M. and B.S. researched data for the article; C.E.K., R.-U.M., M.F., B.S. and T.B. contributed to discussion of the article's content; C.E.K. and T.B. wrote the manuscript; and C.E.K., R.-U.M., B.S. and T.B. reviewed and edited the manuscript before submission.

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Correspondence to Thomas Benzing.

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Kurschat, C., Müller, RU., Franke, M. et al. An approach to cystic kidney diseases: the clinician's view. Nat Rev Nephrol 10, 687–699 (2014). https://doi.org/10.1038/nrneph.2014.173

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