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Nephronophthisis : A Genetically Diverse Ciliopathy
Joint Authors
Eley, Lorraine
Sayer, John A.
Simms, Roslyn J.
Hynes, Ann Marie
Source
International Journal of Nephrology
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-05-15
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Simms, Roslyn J.& Hynes, Ann Marie& Eley, Lorraine& Sayer, John A.. 2011. Nephronophthisis : A Genetically Diverse Ciliopathy. International Journal of Nephrology،Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-478762
Modern Language Association (MLA)
Simms, Roslyn J.…[et al.]. Nephronophthisis : A Genetically Diverse Ciliopathy. International Journal of Nephrology No. 2011 (2011), pp.1-10.
https://search.emarefa.net/detail/BIM-478762
American Medical Association (AMA)
Simms, Roslyn J.& Hynes, Ann Marie& Eley, Lorraine& Sayer, John A.. Nephronophthisis : A Genetically Diverse Ciliopathy. International Journal of Nephrology. 2011. Vol. 2011, no. 2011, pp.1-10.
https://search.emarefa.net/detail/BIM-478762
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-478762