Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2011:2011:527137.
doi: 10.4061/2011/527137. Epub 2011 May 15.

Nephronophthisis: a genetically diverse ciliopathy

Roslyn J Simms  1 , Ann Marie Hynes, Lorraine Eley, John A Sayer
Affiliations

Nephronophthisis: a genetically diverse ciliopathy

Roslyn J Simms et al. Int J Nephrol. 2011.

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Diagnostic algorithm for suspected cases of NPHP. ARPKD: autosomal recessive polycystic kidney disease; BBS: Bardet-Biedl syndrome; CKD: chronic kidney disease; Coag: coagulation; ERF: established renal failure; FBC: full blood count; JS: Joubert syndrome; LFT: liver function tests; Mg: magnesium; MRI: magnetic resonance imaging; NPHP: nephronophthisis; RRT: renal replacement therapy; UE: urea and electrolytes.
See this image and copyright information in PMC

References

    1. Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. Journal of the American Society of Nephrology. 2007;18(6):1855–1871. - PubMed
    1. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. Journal of the American Society of Nephrology. 2009;20(1):23–35. - PMC - PubMed
    1. Potter DE, Holliday MA, Piel CF, Feduska NJ, Belzer FO, Salvatierra O., Jr. Treatment of end-stage renal disease in children: a 15-year experience. Kidney International. 1980;18(1):103–109. - PubMed
    1. Waldherr R, Lennert T, Weber HP, Födisch HJ, Schärer K. The nephronophthisis complex. A clinicopathologic study in children. Virchows Archiv A Pathological Anatomy and Histology. 1982;394(3):235–254. - PubMed
    1. Ala-Mello S, Koskimies O, Rapola J, Kääriäinen H. Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups. European Journal of Human Genetics. 1999;7(2):205–211. - PubMed