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Updated: May 24, 2026

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Published on: May 6, 2018
Clinical spectrum and pathogenesis of nephronophthisis
Thomas Benzing1, Bernhard Schermer
1Department II of Internal Medicine and Center for Molecular Medicine Cologne, Cologne, Germany.
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.
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