Abstract

In recent years significant progress has been made towards understanding primary cilia function. Primary cilia are specialized organelles that extend from the cell surface of almost all mammalian (and human) cells. Mutations in genes encoding for ciliary proteins cause alterations in the structure and function of primary cilia. These alterations are responsible for the development of diseases named ciliopathies. These diseases are characterized by kidney cysts (autosomal recessive and dominant polycystic kidney disease, nephronophthisis etc.), hepatic cysts (Meckel – Gruber syndrome etc.) and by malformations of the central nervous system (Joubert syndrome, Bardet – Biedel syndrome etc.) Cilia also play a major role in the development of other tissues (skeleton, dentin, retina, heart etc.) They detect and transduce mechanical, chemical and osmotic signals to the cell and act as a relay centre in which different signals and pathways are integrated. Recently, it has been shown in different animal models of cystic disease that successful therapeutic interventions are possible (use of drugs to slow cyst progression). In our short overview of ciliopathies in children we have sindrofocused on the role of primary cilia in the kidney, liver and central nervous system, the three organs mainly affected in ciliopathies. Ciliary dysfunction in some other tissues is also described.

Key words: primary cilia, ciliopathies, kidney, liver, central nervous system.