Childhood polycystic kidney disease

William E. Sweeney, Meral Gunay-Aygun, Ameya Patil, Ellis D. Avner

Research output: Chapter in Book/Report/Conference proceedingChapter

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.

Original languageEnglish (US)
Title of host publicationPediatric Nephrology, Seventh Edition
PublisherSpringer Berlin Heidelberg
Pages1103-1153
Number of pages51
ISBN (Electronic)9783662435960
ISBN (Print)9783662435953
DOIs
StatePublished - Jan 1 2015

ASJC Scopus subject areas

  • Medicine(all)

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