Weekly issue 2026-W41 ·
Hepatic manifestations of ciliopathies: genetic causes and clinical update
Plain language
Ciliopathies are inherited conditions caused by faults in cilia, tiny antenna-like structures on cells. Many of them, including ARPKD and ADPKD, can affect the liver as well as the kidneys. This review explains how faulty cilia disturb the development of the liver's bile ducts and describes the main liver patterns: scarring of the liver and high pressure in its blood vessels in ARPKD, liver cysts in ADPKD, which usually appear in adulthood, and other patterns in rarer syndromes. Genetic testing with large gene panels or genome sequencing is increasingly used to find the cause. It is a review of existing knowledge, not a new study.
Clinical note
Narrative review with a paediatric focus. Ciliary dysfunction in cholangiocytes and hepatic progenitors disrupts ductal plate remodelling, causing ductal plate malformation, aberrant biliary branching and progressive periductal fibrosis. PKHD1, PKD1 and PKD2 remain central; ER/glycosylation genes (GANAB, ALG8, PRKCSH, SEC63, DNAJB11) and trafficking/IFT-A and WDR/dynein-2 components (TULP3, WDR family) are increasingly recognised. Phenotypes: congenital hepatic fibrosis and portal hypertension in ARPKD; hepatic cysts in ADPKD and ADPLD, usually adult onset; steatotic liver disease in Bardet-Biedl syndrome; transaminitis or fibrocystic liver disease in Joubert and WDR-related disorders. DCDC2 and PKD1L1 are implicated in neonatal cholestasis and biliary atresia. Diagnosis increasingly relies on multigene panels or exome/genome sequencing, with functional assays to interpret novel alleles.
Question for your next visit
Should my child's liver be checked as well as their kidneys, and how often?