Narrative review uncovers molecular mechanisms and signaling cascades in renal ciliopathies, highlighting pathways for prenatal diagnosis and targeted therapies.
Key Points
To systematically review the molecular mechanisms, genetic heterogeneity, and aberrant signaling cascades underlying renal ciliopathies to guide prenatal diagnosis and therapeutic development.
Synthesized evidence on primary cilia structure, mechanosensation, and signal transduction pathways in renal epithelial cells.
Evaluated the molecular pathogenesis driving the progression from cystogenesis to tubulointerstitial fibrosis and renal failure.
Assessed limitations in prenatal genetic diagnosis arising from genetic heterogeneity, variable penetrance, and phenotypic overlap.
Structural and functional defects in primary cilia disrupt mechanosensation and downstream signaling, causing uncontrolled epithelial proliferation and loss of cell polarity.
Unidirectional modulation of single pathways has proven insufficient due to the complex, integrated signaling networks governing cyst expansion and progressive fibrosis.
Phenotypic overlap, variable penetrance, and broad genetic heterogeneity continue to constrain the accuracy of prenatal diagnostic testing.