TEMPORARY REMOVAL: Genetic and Sporadic Renal Cystic Diseases During the Perinatal and Neonatal Period: Core Curriculum 2021

Abstract Renal cystic disease encompasses a large variety of illnesses with variable phenotypic expression 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), hepatic disease, or kidney failure, potentially being life threatening. Due to the prevalence and life-altering complications of cystic kidney diseases in the pediatric population, it is crucial for clinicians and healthcare providers to pre-emptively detect and provide effective management. This installment of AJKD’s Core Curriculum in Nephrology discusses the various genetic and sporadic kidney cystic diseases including multicystic dysplastic kidney, nephronophthisis, cystic dysplasia, hepatocyte nuclear factor 1-beta (HNF1-beta) nephropathy, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Zellweger syndrome, calyceal diverticulum, autosomal recessive polycystic kidney disease (ARPKD), and autosomal dominant polycystic kidney disease (ADPKD). For reach of these renal cystic diseases, this article depicts the epidemiology, genetics and pathophysiology, diagnosis, presentation, and management, with emphasis on prenatal care and pregnancy counseling.