Genetics, Cyst Formation, and Inheritance Patterns of Polycystic Kidney Disease

ABSTRACT
Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the formation of numerous cysts in the kidneys. This chapter explores the genetic mutations, cyst formation, molecular mechanisms of cyst formation, inheritance patterns, and the role of genetic testing and counseling for PKD. ADPKD (Autosomal Dominant Polycystic Kidney Disease) and ARPKD (Autosomal Recessive Polycystic Kidney Disease) are the two main types of PKD, each caused by mutations in different genes and inherited in different ways. Understanding the molecular pathways affected by these mutations, such as cAMP signaling and mTOR pathways, helps in comprehending how the disease progresses. Genetic testing can confirm a diagnosis of PKD, while genetic counseling provides crucial support and information for individuals and families.

Cite as: Genetics, Cyst Formation, and Inheritance Patterns of Polycystic Kidney Disease. In: Polycystic Kidney Disease: Public Education. Brisbane (AU): Exon Publications; 2024. Online first 2024 May 28. ISBN: 978-0-6458663-8-4
DOI: https://doi.org/10.36255/polycystic-kidney-disease-genetics-cyst-formation-inheritance