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International Journal of Nephrology
Volume 2011, Article ID 527137, 10 pages
http://dx.doi.org/10.4061/2011/527137
Review Article

Nephronophthisis: A Genetically Diverse Ciliopathy

1Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
2Renal Services, Freeman Hospital, The Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE7 7DN, UK

Received 14 February 2011; Accepted 28 February 2011

Academic Editor: Franz Schaefer

Copyright © 2011 Roslyn J. Simms et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corticomedullary cysts. Importantly, NPHP is associated with extra renal manifestations in 10–15% of patients. The most frequent extrarenal association is retinal degeneration, leading to blindness. Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. In this paper, we discuss the latest understanding in the molecular and cellular pathogenesis of NPHP. We suggest an appropriate clinical management plan and screening programme for individuals with NPHP and their families.