Renal cystic diseases during the perinatal and neonatal period

Article type: Review Article

Authors: Raina, R.^{a; b; 1; *} | DeCoy, M.^{c; 1} | Chakraborty, R.^{a; b} | Mahajan, S.^d | Moran, R.^e | Gibson, K.^f | Kumar, D.^g | Bergmann, C.^h

Affiliations: [a] Department of Nephrology, Akron Children’s Hospital, Akron, OH, USA | [b] Akron Nephrology Associates/Cleveland Clinic Akron General, Akron, OH, USA | [c] Department of Pediatrics, Akron Children’s Hospital, Akron, OH, USA | [d] Revere High School, Richfield, OH, USA | [e] Department of Genetics, MetroHealth Medical Center/Case Western Reserve University, Cleveland, OH, USA | [f] Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, MetroHealth Medical Center/Case Western Reserve University, Cleveland, OH, USA | [g] Department of Pediatrics, Division of Neonatology, MetroHealth Medical Center/Case Western Reserve University, Cleveland, OH, USA | [h] Department of Medicine, Nephrology, University Hospital Freiburg, Freiburg, Germany

Correspondence: [*] Address for correspondence: Rupesh Raina, MD, FAAP, FACP, FASN, FNKF, Department of Nephrology, Cleveland Clinic Akron General and Akron Children’s Hospital, Akron, Ohio, USA. Tel.: +1 330 543 8950; Fax: +1 330 543 3980; E-mail: rraina@akronchildrens.org.

Note: [1] Co-first authors.

Abstract: Renal cystic diseases are a clinically and genetically diverse group of renal diseases that can manifest in utero, infancy, or throughout childhood and adulthood. These diseases may be unilateral or bilateral with a single cyst or multiple cysts, or with increased echogenicity of the renal cortex without macroscopic cysts. Certain cystic renal diseases are life-threatening, with many developing chronic kidney and hepatic disease if not recognized early enough. Therefore, due to the prevalence and life-altering complications of this specific group of diseases in vulnerable populations, it is crucial for clinicians and healthcare providers to have an overall understanding of cystic diseases and how to pre-emptively detect and manage these conditions. In this review, we discuss in detail the epidemiology, genetics and pathophysiology, diagnosis, presentation, and management of numerous genetic and sporadic renal cystic diseases, such as polycystic kidney disease, multicystic dysplastic kidney, and calyceal diverticula, with an emphasis on prenatal care and pregnancy counseling.

Keywords: Cystic disease, perinatal, neonatal, renal, ARPKD, ADPKD

DOI: 10.3233/NPM-200520

Journal: Journal of Neonatal-Perinatal Medicine, vol. 14, no. 2, pp. 163-176, 2021