Scope and meaning of ciliopathies in pediatric practice

Ciliopathies are a group of disorders that are caused by cilium dysfunction. Until recent years the cilium was considered to be a nonfunctional, evolutionary remnant. This view drastically changed; we now know that this organelle of the cell is critical for proper development and functioning of numerous organs and tissues. Initially it became clear that ciliary disturbance can lead to polycystic kidneys, however, the ciliopathy spectrum appears to be much broader and involves many other features including intellectual disability, skeletal dysplasia, liver fibrosis, blindness and ectodermal dysplasia. This review gives insights into the genetic causes that have been identified for a number of ciliopathies. We thereby focus on those disorders wherein renal failure is at least one of the features. We also discuss how the possibilities for genome diagnostics are changing and why it is important to provide patients with a genetic diagnosis with respect to disease management, genetic counseling and the development of personalized therapies. © 2014 Bohn, Stafleu van Loghum.