Pediatria pre prax 4/2012

Ciliopathies and polycystic kidney disease

Ciliopathies are a heterogenous group of disorders that are caused by dysfunction of cilia – hair like organelles. They are found on the surface of almost every human cell. Impaired function of primary cilia leads to number of syndromes, in which the cystic kidney disease is a common sign. Phenotype of these syndromes is variable. It depends on the mutation in a particular gene, which when mutated its protein product in cilia is missing or dysfunctional. Autosomal dominant type of polycystic kidney disease is the most common monogenic disorder of kidney with macrocystic degeneration during lifespan. Autosomal recessive type is a rare hereditary disorder with a lot of microcysts in enlarged kidneys and renal failure in utero or in the first few months, sometimes years of life. Nephronophthisis is a disorder with an autosomal recessive inheritance, which leads to terminal renal failure in the first three decades of life. In nephronophthisis kidneys are of normal size or smaller than normal and cysts develop corticomedullary. Many other ciliopathies with the presence of nephronophthisis are known, e. g. Bardet-Biedl syndrome, Joubert syndrome. Alström syndrome, Senior-Løken syndrome etc., in which not only kidneys but also retina, brain, liver or bones are affected.

Keywords: cilia, polycystic kidney disease, children, genetics, pathology, clinical signs.