Renal ciliopathies are a group of disorders characterized by nephronophthisis, cystic kidneys, or renal cystic dysplasia whose underlying disease pathogenesis is related to abnormal structure or function of the primary cilia complex. The number of renal ciliopathies continues to expand as genomic and genetic approaches identify novel causes. This in turn provides new opportunities to explore disease mechanisms and therapeutic approaches to target cystic kidney disease and other associated phenotypes. In the field of recent advances in renal ciliopathies, the novel genes for nephronophthisis (NPHP), autosomal dominant polycystic kidney disease (ADPKD), autosomal recessive polycystic kidney disease (ARPKD), and Joubert syndrome (JS) will be highlighted in this article, to improve our insight about the fascinating spectrum of these diseases.
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