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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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | International Journal of Nephrology |
| Online Access: | http://dx.doi.org/10.4061/2011/527137 |
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| author | Roslyn J. Simms Ann Marie Hynes Lorraine Eley John A. Sayer |
| author_facet | Roslyn J. Simms Ann Marie Hynes Lorraine Eley John A. Sayer |
| author_sort | Roslyn J. Simms |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-598cd6cd475d4f97906f5f21dad94128 |
| institution | Kabale University |
| issn | 2090-214X 2090-2158 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Nephrology |
| spelling | doaj-art-598cd6cd475d4f97906f5f21dad941282025-02-03T07:24:19ZengWileyInternational Journal of Nephrology2090-214X2090-21582011-01-01201110.4061/2011/527137527137Nephronophthisis: A Genetically Diverse CiliopathyRoslyn J. Simms0Ann Marie Hynes1Lorraine Eley2John A. Sayer3Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UKInstitute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UKInstitute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UKInstitute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UKNephronophthisis (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.http://dx.doi.org/10.4061/2011/527137 |
| spellingShingle | Roslyn J. Simms Ann Marie Hynes Lorraine Eley John A. Sayer Nephronophthisis: A Genetically Diverse Ciliopathy International Journal of Nephrology |
| 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 |
| url | http://dx.doi.org/10.4061/2011/527137 |
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