Polycystic Kidney Disease

2008/10/23 by Peter C. Harris, Vicente E. Torres · 806 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Autosomal Recessive Polycystic Kidney Disease #Autosomal dominant polycystic kidney disease #Biology #Biomedical Research and Pathophysiology #Cell biology #Ciliopathies #Ciliopathy #Cilium #Cyst #Genetic and Kidney Cyst Diseases #Genetics #Internal medicine #Kidney #Medicine #Nephronophthisis #PKD1 #Pathology #Phenotype #Polycystic kidney disease #Renal and related cancers #Signal transduction #Wnt signaling pathway

paper · open access · doi:10.1146/annurev.med.60.101707.125712

published in Annual Review of Medicine 60(1), 321-337 (Annual Reviews)

openalex publication_date 2008/10/23 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to primary cilia and may act as a mechanosensor essential for maintaining the differentiated state of epithelia lining tubules in the kidney and biliary tract. Elucidation of defective cellular processes has highlighted potential therapies, some of which are now being tested in clinical trials. ARPKD is the neonatal form of PKD and is associated with enlarged kidneys and biliary dysgenesis. The disease phenotype is highly variable, ranging from neonatal death to later presentation with minimal kidney disease. ARPKD is caused by mutation in PKHD1, and two truncating mutations are associated with neonatal lethality. The ARPKD protein, fibrocystin, is localized to cilia/basal body and complexes with polycystin-2. Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis.

Citations

• PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

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• Single-cell sequencing and organoids: applications in organ development and disease
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• Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks
• Left–right asymmetry: cilia stir up new surprises in the node
• Autosomal dominant polycystic kidney disease: the last 3 years
• Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease
• The cell biology of polycystic kidney disease
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