Liver disease in ciliopathies
Claudia Mandato1,Carmine Pecoraro2
1Dipartimento di Medicina, Chirurgia ed Odontoiatria, Scuola Medica Salernitana, Università di Salerno, Salerno 2Dipartimento di Pediatria, Azienda Ospedaliera Pediatrica Santobono-Pausilipon, Napoli
Disorders of the primary cilia include autosomal dominant and recessive polycystic kidney diseases, nephronophthisis, as well as multisystem disorders Joubert, Bardet-Biedl, Alström, Meckel-Gruber, oral-facial-digital syndromes, and Jeune chondrodysplasia and other skeletal ciliopathies. Liver involvement is frequent and mostly characterized by congenital hepatic fibrosis and Caroli disease, which can lead to portal hypertension and its complication or cholangitis. Chronic progressive disease of the kidneys, liver, and retina are the major complications of ciliopathies. Obesity and type 2 diabetes mellitus are characteristic features of Bardet-Biedl and Alström syndromes. Overlapping clinical features and molecular heterogeneity of these ciliopathies render their diagnoses and management challenging.