Kidney: polycystic kidney disease

2014/09/03 by Binu M. Paul, Gregory B. Vanden Heuvel · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Autosomal Recessive Polycystic Kidney Disease #Autosomal dominant polycystic kidney disease #Biology #Cell biology #Cilium #Cystic kidney disease #Embryonic stem cell #Endocrinology #Gene #Genetic and Kidney Cyst Diseases #Genetics #Internal medicine #Kidney #Kidney development #Medicine #PKD1 #Pathology #Polycystic kidney disease #Renal and related cancers #Renal cell carcinoma treatment #Transplantation

paper · pdf · doi:10.1002/wdev.152

openalex publication_date 2014/09/03 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/06

Abstract

Polycystic kidney disease ( PKD ) is a life‐threatening genetic disorder characterized by the presence of fluid‐filled cysts primarily in the kidneys. PKD can be inherited as autosomal recessive ( ARPKD ) or autosomal dominant ( ADPKD ) traits. Mutations in either the PKD1 or PKD2 genes, which encode polycystin 1 and polycystin 2, are the underlying cause of ADPKD . Progressive cyst formation and renal enlargement lead to renal insufficiency in these patients, which need to be managed by lifelong dialysis or renal transplantation. While characteristic features of PKD are abnormalities in epithelial cell proliferation, fluid secretion, extracellular matrix and differentiation, the molecular mechanisms underlying these events are not understood. Here we review the progress that has been made in defining the function of the polycystins, and how disruption of these functions may be involved in cystogenesis. WIREs Dev Biol 2014, 3:465–487. doi: 10.1002/wdev.152 This article is categorized under: Signaling Pathways > Global Signaling Mechanisms Birth Defects > Organ Anomalies

Citations

• Third-Hit Signaling in Renal Cyst Formation
• Autosomal dominant polycystic kidney disease: the last 3 years
• Branching morphogenesis of the ureteric epithelium during kidney development is coordinated by the opposing functions of GDNF and Sprouty1
• Comparison between siblings and twins supports a role for modifier genes in ADPKD
• Polycystin-1 Activation of c-Jun N-terminal Kinase and AP-1 Is Mediated by Heterotrimeric G Proteins
• Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells
• Variation in Age at ESRD in Autosomal Dominant Polycystic Kidney Disease
• Genetics and Pathogenesis of Polycystic Kidney Disease
• The cell biology of polycystic kidney disease
• The Primary Cilium as a Complex Signaling Center
• Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1
• Autosomal dominant polycystic kidney disease

Cited by

• Autosomal dominant polycystic kidney disease [wikipedia]

Related

• The cell biology of polycystic kidney disease
• Polycystic Kidney Disease
• Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks
• Polycystic kidney disease and renal injury repair: common pathways, fluid flow, and the function of polycystin-1
• Third-Hit Signaling in Renal Cyst Formation