Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management

Kathrin Burgmaier; Ilse J Broekaert; Max C Liebau

doi:10.1053/j.akdh.2023.01.005

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management

Adv Kidney Dis Health. 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005.

Authors

Kathrin Burgmaier¹, Ilse J Broekaert², Max C Liebau³

Affiliations

¹ Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany; Faculty of Applied Healthcare Science, Deggendorf Institute of Technology, Deggendorf, Germany.
² Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany.
³ Department of Pediatrics, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany; Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine Cologne, University Hospital Cologne and Faculty of Medicine, University of Cologne, Cologne, Germany. Electronic address: [email protected].

PMID: 38097335
DOI: 10.1053/j.akdh.2023.01.005

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenital hepatic fibrosis or Caroli syndrome. ARPKD remains a clinical challenge in pediatrics, frequently requiring continuous and long-term multidisciplinary treatment. In this review, we aim to give an overview over clinical aspects of ARPKD and recent developments in our understanding of disease progression, risk patterns, and treatment of ARPKD.

Keywords: Cystic kidneys; Fibrocystin; PKD; PKD1; PKHD1.

Publication types

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

MeSH terms

Caroli Disease* / diagnosis
Child
Humans
Liver Cirrhosis / diagnosis
Polycystic Kidney, Autosomal Recessive* / diagnosis
Prognosis
Receptors, Cell Surface

Substances

Receptors, Cell Surface