Clinical spectrum and pathogenesis of nephronophthisis.

PURPOSE OF REVIEW: Nephronophthisis (NPH) comprises a group of autosomal recessive cystic kidney diseases and is the most frequent genetic cause of end-stage renal disease in children and adolescents. Causative mutations in more than a dozen genes have been identified that encode for the NPH protein family. Almost all of these proteins localize to primary cilia leading to the classification of NPH as a ciliopathy. The purpose of this review is to highlight the latest research on the molecular pathogenesis of the ciliopathy NPH.

RECENT FINDINGS: Recent identification of novel disease causing genes and research on the localization and signaling function of nephrocystins have paved the way to a more detailed understanding of the molecular and cellular pathology of NPH and associated ciliopathies.

SUMMARY: Here we discuss the most recently identified NPH related genes, the role of the NPH protein complex in ciliary biology and recently discovered functions of NPH proteins in cellular signaling.