Clinically, TULP3-related ciliopathy is a multisystem degenerative fibrotic disorder characterized by:
• Progressive liver fibrosis/cirrhosis
• Variable fibrocystic kidney disease
• Late-onset hypertrophic cardiomyopathy
Variable onset: early childhood to late adulthood.
Progressive course: degenerative fibrosis, affecting multiple organs over decades.
Oldest survivors: > 65 years without liver transplant, but with cirrhosis and ESKD.
TULP3