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Nephronophthisis: Current clinical spectrum and molecular pathogenesis.
Ya Li1,2, Siwei Yang3, Xiying Chen1
1Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases, Hangzhou, China.
The FEBS Journal
|July 4, 2026
Summary
Nephronophthisis (NPH) is a genetic kidney disease causing end-stage kidney disease (ESKD). Advances reveal over 20 causative genes and molecular pathways, paving the way for new therapies like gene therapy.
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Nephronophthisis (NPH) is a primary ciliopathy affecting renal tubules and interstitial tissue, leading to end-stage kidney disease (ESKD).
- NPH presents a broad clinical spectrum, classified by age of onset (infantile, juvenile, adolescent, late-onset).
- Histopathology reveals corticomedullary cysts, tubular atrophy, interstitial fibrosis, and cystic dilatation of distal tubules.
Purpose of the Study:
- To review current understanding of NPH classification, clinical features, and molecular mechanisms.
- To highlight recent advances in genetic discoveries and pathogenic signaling pathways.
- To summarize emerging therapeutic strategies for NPH.
Main Methods:
- Literature review of NPH classification and clinical features.
- Analysis of genetic discoveries and identified causative genes (e.g., NPHP1).
- Examination of molecular mechanisms involving ciliary function and signaling pathways.
Main Results:
- Over 20 causative genes identified, encoding proteins crucial for ciliary function.
- Disruption of ciliary function leads to epithelial polarity loss, impaired trafficking, and disrupted signaling.
- Extrarenal manifestations define nephronophthisis-related ciliopathies (NPH-RC).
Conclusions:
- NPH pathogenesis involves disrupted ciliary structure and signaling, causing progressive kidney damage.
- Genetic discoveries have expanded our understanding of NPH.
- Gene therapy and targeted molecular interventions show promise as future therapeutic strategies.
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