Professionals

Inheritance: Autosomal recessive
Causative gene:TULP3 (Tubby-like protein 3) — a ciliary trafficking adaptor for the IFT-A complex

Clinical Manifestations:
Liver Disease
Earliest and most consistent feature— usually first manifestation in childhood or early adulthood.

Findings:
Elevated liver enzymes and biochemical cholestasis.
Portal hypertensionwith splenomegaly, thrombocytopenia, and variceal bleeding.
Progressive bridging fibrosis and cirrhosis(confirmed on histology).
Minimal inflammatory infiltrate and ductular reaction.
No ductal plate malformation(distinguishing from congenital hepatic fibrosis).
Liver transplantationrequired in several individuals (as early as 3rd decade).

Kidney Disease
Variable expression, often detected later (2nd–6th decade).

Findings:
Fibrocystic kidney disease: hyperechogenic kidneys, poor corticomedullary differentiation, or renal cysts.
Chronic kidney disease and, in some cases, end-stage kidney disease (ESKD at ages 7–55).
Kidney biopsy: interstitial fibrosis and tubular dilatation.

Cardiac Disease
Hypertrophic non-obstructive cardiomyopathy (HNCM)in several adults (6th–7th decade).

MRI and biopsy findings:
Concentric left-ventricular hypertrophy.
Diffuse interstitial myocardial fibrosis.
Pattern inconsistent with classical sarcomeric HCM, indicating systemic fibrotic disease.