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Ciliopathies: Their Role in Pediatric Renal Disease

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Pediatric Kidney Disease

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Abstract

Cilia are evolutionarily extremely well conserved, microtubule based structures. Over the past two decades, their essential role during development and for tissue homeostasis, especially for the mammalian kidney, has come to light and with the development of Next Generation Sequencing techniques, an ever increasing number of ciliary genes has been identified as causative for human hereditary renal diseases. Most of these conditions manifest themselves at birth, in childhood or during adolescence and the vast majority causes complex phenotypes affecting multiple organ systems. While cilia and ciliary dysfunction have been linked to multiple cellular signalling pathways, the molecular pathomechanism underlying renal ciliopathies is still poorly understood. This chapter will focus on what is known to date about ciliary structure and their involvement in cell signalling pathways, summarize ciliopathies with renal involvement, especially conditions resulting from dysfunction of Intraflagellar Transport (IFT) and discuss their underlying pathobiology.

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Acknowledgment

We apologize to all colleagues whose findings could not be cited due to space constraints. Miriam Schmidts and Philip L. Beales acknowledge funding from the Dutch Kidney Foundation, DKF (KOUNCIl, CP11.18). Miriam Schmidts is funded by an Action Medical Research UK Clinical Training Fellowship (RTF-1411) and Philip L. Beales receives funding from the European Community’s Seventh Framework Programme FP7/2009; 241955, SYSCILIA, the Wellcome Trust and is an NIHR Senior Investigator.

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  1. Department of Pediatrics, Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Mathildenstrasse 1, 79100, Freiburg, Germany

    Miriam Schmidts

  2. Department of Human Genetics, Genome Research, Radboud University Hospital Nijmegen, Geert Grooteplain Zuid 10, Nijmegen, 6525 GA, The Netherlands

    Miriam Schmidts

  3. Department of Genetics and Genomics Medicine, Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK

    Philip L. Beales

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  1. Miriam Schmidts
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Correspondence to Miriam Schmidts .

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  1. Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada

    Denis F. Geary

  2. Division of Pediatric Nephrology, University of Heidelberg, Heidelberg, Germany

    Franz Schaefer

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Schmidts, M., Beales, P.L. (2016). Ciliopathies: Their Role in Pediatric Renal Disease. In: Geary, D., Schaefer, F. (eds) Pediatric Kidney Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52972-0_11

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