Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021

Am J Kidney Dis. 2021 Jul;78(1):125-141. doi: 10.1053/j.ajkd.2020.10.021. Epub 2021 Jan 6.


Renal cystic disease encompasses a large variety of illnesses with various phenotypic expressions that can manifest in utero, in infancy, and in childhood. These diseases may be unilateral or bilateral and present with single or multiple cysts. Various cystic diseases may also progress to chronic kidney disease (CKD), including kidney failure, and hepatic disease, thus potentially being life threatening. The prevalence and serious complications of CKD in the pediatric population make it vital that health care providers detect these conditions early and provide effective management. This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicystic dysplastic kidney, nephronophthisis, cystic dysplasia, hepatocyte nuclear factor 1-β (HNF1-β) nephropathy, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Zellweger syndrome, calyceal diverticulum, autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic kidney disease (ADPKD). This article discusses the epidemiology, genetics and pathophysiology, diagnosis, presentation, and management for each of these renal cystic diseases, with particular attention to prenatal care and pregnancy counseling.

Keywords: Bardet-Biedl syndrome (BBS); HNF1-β nephropathy; Zellweger spectrum disorders; calyceal diverticula (CD); children; ciliopathy; congenital disease; cystic dysplasia; fetal kidney anomaly; infantile nephronophthisis (NPHP); kidney disease; multicystic dysplastic kidney (MCDK); pediatric; polycystic kidney disease (PKD); prenatal; prenatal counseling; renal cystic disease; review.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Curriculum
  • Humans
  • Infant, Newborn
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / therapy*
  • Nephrology / education