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Autosomal Dominant Polycystic Kidney Disease

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Pediatric Nephrology

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Abstract

Pierre Rayer first described the cystic degeneration of the kidneys in 1841. Later Felix Lejars formally coined the term “polycystic kidney disease” in 1888. However, to date, autosomal dominant polycystic disease (ADPKD) is still a disease without cure despite representing the most common monogenic cause of renal failure. Research accelerated after PKD1 and PKD2 were identified in 1994 and 1996, several underlying mechanisms that cause ADPKD have been elucidated, and major advancements in diagnosing, prognosticating, and understanding the natural course of the disease resulted in the approval of the first likely disease-modifying treatment in vasopressin V2 receptor antagonists.

Awareness is growing that the clinical course of ADPKD begins in childhood and the wind of change in the management of more nephron-protective strategies and lifestyle modifications with early referral and follow-up are evolving. This chapter aims to deeply describe the genetic background, pathophysiology, clinical manifestations, and main therapeutic options including the future perspective. The currently accepted views on the optimal management in childhood ADPKD with regard to ethical and practical aspects will be summarized.

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Author information

Authors and Affiliations

  1. Rocky Mountain Pediatric Kidney Center, Rocky Mountain Hospital for Children at Presbyterian/St. Luke’s Medical Center, Denver, CO, USA

    Melissa A. Cadnapaphornchai

  2. Department of Pediatric Nephrology and Organ Transplantation, University Hospitals Leuven, Leuven, Belgium

    Djalila Mekahli

  3. PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, KU Leuven, Leuven, Belgium

    Djalila Mekahli

Authors
  1. Melissa A. Cadnapaphornchai
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  2. Djalila Mekahli
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Corresponding authors

Correspondence to Melissa A. Cadnapaphornchai or Djalila Mekahli .

Editor information

Editors and Affiliations

  1. Division of Nephrology, Bambino Gesù Children’s Hospital –, ROMA, Roma, Italy

    Francesco Emma

  2. Division of Nephrology and Hypertension The Heart Institute, University of Cincinnati Cincinnati Children’s Hospital Medical C, Cincinnati, OH, USA

    Stuart Goldstein

  3. Division of Nephrology, All India Institute of Medical Sciences, Ansari Nagar East, Delhi, India

    Arvind Bagga

  4. Division of Pediatric Nephrology, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Carlton M. Bates

  5. Renal Unit, Graet Ormond Street Hospital, London, UK

    Rukshana Shroff

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© 2021 Springer-Verlag GmbH Germany, part of Springer Nature

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Cadnapaphornchai, M.A., Mekahli, D. (2021). Autosomal Dominant Polycystic Kidney Disease. In: Emma, F., Goldstein, S., Bagga, A., Bates, C.M., Shroff, R. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27843-3_116-1

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  • DOI: https://doi.org/10.1007/978-3-642-27843-3_116-1

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-27843-3

  • Online ISBN: 978-3-642-27843-3

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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