Molecular Basis of Polycystic Kidney Disease

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 November 2024) | Viewed by 198

Special Issue Editors


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Guest Editor
Renal, Electrolyte, and Hypertension Division, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Interests: chronic kidney disease; acute kidney injury; single-cell transcriptome; spatial transcriptome; epigenetic; genome perturbation

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Guest Editor Assistant
Renal, Electrolyte, and Hypertension Division, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Interests: chronic kidney disease; acute kidney injury; single-cell transcriptome; spatial transcriptome; epigenetic; genome perturbation

Special Issue Information

Dear Colleagues,

Polycystic kidney disease (PKD) is a leading cause of renal failure globally, encompassing various forms: Autosomal Dominant Polycystic Kidney Disease (ADPKD), Autosomal Recessive Polycystic Kidney Disease (ARPKD), Acquired Cystic Kidney Disease (ACKD), and other less common types like Glomerulocystic Kidney Disease and Medullary Sponge Kidney. These conditions are characterized by the growth of fluid-filled cysts that impair kidney function by causing scarring and organ damage.

PKD is primarily genetic, often linked to mutations in the PKD1 and PKD2 genes, which produce the crucial polycystin proteins essential for kidney health. Disruption in these proteins leads to cyst formation. Diagnosis typically involves imaging techniques such as ultrasound, which reveals the cysts, supplemented by genetic testing to identify causative mutations.

This special issue delves into the intricate genetic and molecular mechanisms driving PKD progression, enhancing our understanding and opening avenues for innovative treatments. It features pioneering research on targeted molecular therapies and new pharmacological approaches designed to mitigate cyst growth and preserve kidney function. By marrying clinical insights with experimental data, this compilation fosters a deeper integration of molecular science with practical healthcare applications, promoting better management strategies for PKD.

Dr. Hailong Hu
Guest Editor

Dr. Xiujie Liang
Guest Editor Assistant

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Keywords

  • PKD
  • polycystin
  • genetic
  • clinical diagnosis
  • molecular mechanism
  • therapeutic target

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Published Papers

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