Childhood polycystic kidney disease

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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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Sweeney, W. E., Gunay-Aygun, M., Patil, A., & Avner, E. D. (2015). Childhood polycystic kidney disease. In Pediatric Nephrology, Seventh Edition (pp. 1103–1153). Springer Berlin Heidelberg. https://doi.org/10.1007/978-3-662-43596-0_32

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