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Analysis of Nephron Composition and Function in the Adult Zebrafish Kidney
Published on: August 9, 2014
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Nephronophthisis
Shalabh Srivastava1, John A Sayer1
1Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
Journal of Pediatric Genetics
|September 15, 2016
Summary
Nephronophthisis (NPHP) is a genetic kidney disease in children leading to kidney failure. Advances in genetics reveal NPHP is a ciliopathy, impacting multiple organs due to protein defects in cilia.
Area of Science:
- Pediatric Nephrology
- Molecular Genetics
- Ciliopathies
Background:
- Nephronophthisis (NPHP) is a significant cause of childhood cystic kidney disease.
- It invariably progresses to end-stage renal disease.
- Diagnosis historically involved clinical suspicion, biochemical tests, imaging, and renal biopsy.
Purpose of the Study:
- To review the historical understanding of Nephronophthisis (NPHP).
- To discuss recent advancements in genetics and proteomics for NPHP.
- To explore the classification of NPHP as a ciliopathy.
Main Methods:
- Review of historical medical literature on NPHP.
- Analysis of recent genetic and proteomic studies on NPHP.
- Examination of NPHP gene functions and protein localization.
Main Results:
- Mutations in NPHP1 cause 20% of NPHP cases; the disease is genetically heterogeneous with over 20 associated genes.
- Most NPHP genes encode proteins localized to the primary cilia, basal body, and centrosome.
- NPHP is a ciliopathy with potential extra-renal manifestations like retinal degeneration and liver fibrosis.
Conclusions:
- Modern molecular genetics significantly aids NPHP diagnosis.
- NPHP pathogenesis involves defects in proteins critical for cilia function.
- Understanding NPHP as a ciliopathy broadens its clinical spectrum and research avenues.
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