Childhood polycystic kidney disease

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

doi:10.1007/978-3-662-43596-0_32

Childhood polycystic kidney disease

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

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

5 Scopus citations

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 language	English (US)
Title of host publication	Pediatric Nephrology, Seventh Edition
Publisher	Springer Berlin Heidelberg
Pages	1103-1153
Number of pages	51
ISBN (Electronic)	9783662435960
ISBN (Print)	9783662435953
DOIs	https://doi.org/10.1007/978-3-662-43596-0_32
State	Published - Jan 1 2015

ASJC Scopus subject areas

Medicine(all)

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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.",

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AU - Sweeney, William E.

AU - Gunay-Aygun, Meral

AU - Patil, Ameya

AU - Avner, Ellis D.

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AB - 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.

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Childhood polycystic kidney disease

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