Background
Congenital hepatic fibrosis (CHF) is an autosomal recessive disease that primarily affects the hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Pathologically, it is defined by its variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Congenital hepatic fibrosis is one of the fibropolycystic diseases, which also include Caroli disease, autosomal dominant polycystic kidney disease (ADPKD), and autosomal recessive polycystic kidney disease (ARPKD).
ARPKD is reported to be caused by mutations in the PKHD1 gene. More than 300 different mutations in the PKHD1 gene have been described but with no genotype-phenotype correlation.
Congenital hepatic fibrosis is associated with an impairment of renal functions, usually caused by an ARPKD, which is a severe form of polycystic kidney disease.
The hepatic manifestations of CHF with rather similar kidney manifestations were first described by Bristowe in 1856.
In 1961, the term congenital hepatic fibrosis, with its varied clinical manifestations, was recognized by Kerr.
Because of the variable clinical presentations, congenital hepatic fibrosis is believed to represent a broad spectrum of hepatic and renal lesions rather than a single clinical entity. Symptoms, which may be early or late, are mostly related to an associated portal hypertension.