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Nephronophthisis: A Genetically Diverse Ciliopathy

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...

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Autores principales: Simms, Roslyn J., Hynes, Ann Marie, Eley, Lorraine, Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108105/
https://www.ncbi.nlm.nih.gov/pubmed/21660307
http://dx.doi.org/10.4061/2011/527137
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author Simms, Roslyn J.
Hynes, Ann Marie
Eley, Lorraine
Sayer, John A.
author_facet Simms, Roslyn J.
Hynes, Ann Marie
Eley, Lorraine
Sayer, John A.
author_sort Simms, Roslyn J.
collection PubMed
description 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.
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spelling pubmed-31081052011-06-09 Nephronophthisis: A Genetically Diverse Ciliopathy Simms, Roslyn J. Hynes, Ann Marie Eley, Lorraine Sayer, John A. Int J Nephrol Review Article 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. SAGE-Hindawi Access to Research 2011-05-15 /pmc/articles/PMC3108105/ /pubmed/21660307 http://dx.doi.org/10.4061/2011/527137 Text en 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.
spellingShingle Review Article
Simms, Roslyn J.
Hynes, Ann Marie
Eley, Lorraine
Sayer, John A.
Nephronophthisis: A Genetically Diverse Ciliopathy
title Nephronophthisis: A Genetically Diverse Ciliopathy
title_full Nephronophthisis: A Genetically Diverse Ciliopathy
title_fullStr Nephronophthisis: A Genetically Diverse Ciliopathy
title_full_unstemmed Nephronophthisis: A Genetically Diverse Ciliopathy
title_short Nephronophthisis: A Genetically Diverse Ciliopathy
title_sort nephronophthisis: a genetically diverse ciliopathy
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3108105/
https://www.ncbi.nlm.nih.gov/pubmed/21660307
http://dx.doi.org/10.4061/2011/527137
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