Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1782205270324150272 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3108105 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | SAGE-Hindawi Access to Research |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT simmsroslynj nephronophthisisageneticallydiverseciliopathy AT hynesannmarie nephronophthisisageneticallydiverseciliopathy AT eleylorraine nephronophthisisageneticallydiverseciliopathy AT sayerjohna nephronophthisisageneticallydiverseciliopathy |