Article short contents


Slovenska pediatrija 2015; 22: 249-265

https://doi.org/



Review article

CILIOPATHIES

R. Rus
Klinični oddelek za nefrologijo, Pediatrična klinika, Univerzitetni Klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Ciliopathies are a group of genetic disorders caused by genetic mutations encoding defective proteins in cilia. The result is abnormal function and/or structure of the cilia. The aim of this article is to describe ciliopathies resulting from primary cilia dysfunction, which lead to diseases of the kidneys and other organs, such as autosomal dominant and recessive polycystic kidney diseases, nephronophthisis and other syndromes associated with renal involvement.

Key words: primary cilia, ciliopathies, autosomal dominant polycystic kidney disease, autosomal recessive polycystic kidney disease, nephronophthisis.


Article PDF