Ciliopathy due to genetic alterations of TULP3 as an uncommon cause of hepatorenocardiac fibrosis.

Abstract

Hepatorenocardiac fibrosis is a group of rare, clinically and genetically heterogeneous inherited disorders affecting the development and degenerative function of the liver and kidneys. It is associated with ciliopathies, a group of diseases characterized by dysfunction of the primary cilium, a key organelle in cell signaling. We present a clinical case of ciliopathy linked to a genetic alteration in the protein TULP3 (TUB Like Protein 3) as a cause of hepatorenocardiac fibrosis.