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Updated: Oct 28, 2026

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
Primary cilia dysfunction in nephronophthisis: molecular drivers of pediatric kidney fibrosis and cystogenesis
Jashan Jindal1, Mohd Haneef2, Sourabh Kosey1
1Department of Pharmacy Practice, ISF College of Pharmacy (An Autonomous College), Moga, Punjab, 142001, India.
Abstract:
Nephronophthisis (NPHP) is an inherited autosomal recessive kidney disease in children and adolescents and a major genetic cause of end-stage kidney disease. It is characterized by corticomedullary cysts and progressive tubulointerstitial fibrosis. NPHP is a ciliopathy characterised by dysfunction of primary cilia, which are essential for tubular integrity, repair, and cellular signalling. Over 20 NPHP gene mutations disrupt nephrocystin proteins concentrated in the primary cilium or centrosome, disrupting key signalling pathways including Wnt, Hedgehog, and mTOR. These abnormalities lead to loss of epithelial polarity, cyst formation, and progressive nephron loss. NPHP clinically manifests as infantile, juvenile or adolescent and can be combined with other multisystem disorders like Joubert and Senior-Løken syndromes. This review summarises the clinical spectrum, genetic and molecular mechanisms, diagnostic approaches, emerging gene-based therapies, and future directions for improving the diagnosis and management of NPHP.
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