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Nephronophthisis

Lookup NU author(s): Dr Roslyn Simms, Dr Lorraine Eley, Professor John SayerORCiD

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Abstract

Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure. NPHP as a renal entity is often part of a multisystem disorder and has been associated with many syndromes including Joubert syndrome (and related disorders) and Senior-Loken syndrome. Recent molecular genetic advances have allowed identification of several genes underlying NPHP. Most of these genes express their protein products, named nephrocystins, in primary cilial/basal body structures. Some nephrocystins are part of adherens junction and focal adhesion kinase protein complexes. This shared localization suggests that common pathogenic mechanisms within the kidney underlie this disease. Functional studies implicate nephrocystins in planar cell polarity pathways, which may be crucial for renal development and maintenance of tubular architecture.

Publication metadata

Author(s): Simms RJ, Eley L, Sayer JA

Publication type: Article

Publication status: Published

Journal: European Journal of Human Genetics

Year: 2009

Volume: 17

Issue: 4

Pages: 406-416

ISSN (print): 1018-4813

ISSN (electronic): 1476-5438

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ejhg.2008.238

DOI: 10.1038/ejhg.2008.238

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