Childhood Polycystic Kidney Disease

Living reference work entry

Abstract

Cystic kidney diseases (CKDs) are a clinically and genetically heterogeneous group of disorders that have renal cysts or cystic dysplasia as a component of their phenotype [1]. Cystic kidneys are an important feature of numerous genetic syndromes, such as the mainly recessively inherited ciliopathies Bardet–Biedl, nephronophthisis, and Joubert, Meckel, and Jeune syndromes or the dominant disorders of tuberous sclerosis (TSC), von Hippel–Lindau (VHL) disease, and branchio-oto-renal syndrome. In addition glomerulocystic kidney disease (GCKD) can be a feature of several inherited, sporadic, and syndromal conditions as well as an expression of ADPKD.

Keywords

Epidermal Growth Factor Receptor Autosomal Dominant Polycystic Kidney Disease Polycystic Kidney Disease Primary Cilium Renal Cyst 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments and Disclosures

Katherine MacRae Dell, M.D.

Associate Professor

Pediatric Nephrology

Cleveland Clinic Children’s

9500 Euclid Avenue, A12-800E

Cleveland OH 44195 USA

Phone: 216-444-6123, Fax: 216-448-6015

E-mail: katherine.dell@case.edu

Katherine MacRae Dell is acknowledged and thanked for her significant contributions to previous editions of this chapter.

W. E. Sweeney, Jr., and E. D. Avner are supported by the NIH-funded Children’s Research Center of Excellence in Pediatric Nephrology at the Children’s Research Institute and the Medical College of Wisconsin (NIH-P50DK076; P.I.- E.D.Avner), the Polycystic Kidney Research Foundation, the Advancing a Healthier Wisconsin Program of the Medical College of Wisconsin, and the Children’s Research Institute of the Children’s Hospital Health System of Wisconsin, the Ellsworth Family Trust, and the Lillian Goldman Charitable Trust.

The Avner–Sweeney laboratory at the Children’s Research Institute currently receives support administered entirely through the Medical College of Wisconsin from the following pharmaceutical companies: Taisho Pharmaceutical Co., Ltd. and Kadmon Corporation. E. D. Avner serves on the Medical Advisory Board of the ARPKD/CHF Alliance (without compensation).

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Copyright information

© Springer-Verlag Berlin Heidelberg (outside the USA) 2015

Authors and Affiliations

  1. 1.Department of Pediatrics, Medical College of WisconsinChildren’s Research Institute, Children’s Hospital Health System of WisconsinMilwaukeeUSA
  2. 2.Medical Genetics Branch, The Intramural Program of the Office of Rare DiseasesNational Human Genome Research InstituteBethesdaUSA
  3. 3.Department of PediatricsMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of MedicineBaltimoreUSA

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