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Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay
Published on: February 20, 2015
Nephronophthisis: a genetically diverse ciliopathy.
Roslyn J Simms1, Ann Marie Hynes, Lorraine Eley
1Institute of Human Genetics, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
International Journal of Nephrology
|June 11, 2011
Summary
Nephronophthisis (NPHP) is a genetic kidney disease causing renal failure in young people. This review covers NPHP
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease.
- It is a primary genetic cause of established renal failure (ERF) in children and young adults.
- NPHP presents with urinary concentrating defects and characteristic renal ultrasound findings.
Purpose of the Study:
- To discuss the latest understanding of the molecular and cellular pathogenesis of NPHP.
- To suggest an appropriate clinical management plan for NPHP.
- To outline a screening program for individuals and families affected by NPHP.
Main Methods:
- Review of current literature on NPHP molecular and cellular pathogenesis.
- Analysis of clinical presentation and diagnostic approaches.
- Discussion of management and screening strategies.
Main Results:
- NPHP involves complex molecular pathways leading to cystic kidney disease.
- Extra-renal manifestations, particularly retinal degeneration, occur in 10-15% of patients.
- Molecular genetic testing is increasingly used for diagnosis, potentially avoiding renal biopsy.
Conclusions:
- Understanding NPHP pathogenesis is crucial for developing targeted therapies.
- Early diagnosis and management are essential for improving patient outcomes.
- Comprehensive screening programs can benefit affected families.
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