Cilium

Internal medicine

Phenotype

Pathology

Disease

Pathogenesis

Bioinformatics

Biology

Gene

PKD1

Autosomal dominant polycystic kidney disease

Kidney

Nephronophthisis

Kidney disease

Polycystic kidney disease

Cystic kidney disease

Ciliopathy

Nephrology

Autosomal Recessive Polycystic Kidney Disease

Genetics

Medicine

Nature Reviews Disease Primers

Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. Cell biological and clinical research approaches have expanded our knowledge of the pathogenesis of ADPKD and ARPKD and revealed some mechanistic overlap between them. A reduced ‘dosage’ of PKD proteins is thought to disturb cell homeostasis and converging signalling pathways, such as Ca2+, cAMP, mechanistic target of rapamycin, WNT, vascular endothelial growth factor and Hippo signalling, and could explain the more severe clinical course in some patients with PKD. Genetic diagnosis might benefit families and improve the clinical management of patients, which might be enhanced even further with emerging therapeutic options. However, many important questions about the pathogenesis of PKD remain. In this Primer, we provide an overview of the current knowledge of PKD and its treatment. Autosomal dominant polycystic kidney disease (PKD) and autosomal recessive PKD are progressive cilia-related disorders that often lead to chronic kidney disease and end-stage renal disease. This Primer provides an overview of the current knowledge of PKD pathogenesis and its treatment.