Phenotypic Variation and Long‐Term Outcome in Children With Congenital Hepatic Fibrosis

Abstract

Caroli syndrome is more likely to present in the neonatal period and these patients are more likely to develop CKD5d. CKD stage 3 or above with recurrent cholangitis is more common in Caroli syndrome presenting beyond the neonatal period and adds to the significant morbidity in these patients. Children presenting in the neonatal period have a more severe phenotype and should be considered early for combined liver-kidney transplant.

Liver involvement in children with ciliopathies

“…In CS or CD, saccular or fusiforms dilatations of proximal intrahepatic bile ducts are noticeable and often associated with intrahepatic and ductal stones. Magnetic resonance cholangiopancreatography (MRCP) reveals similar findings [21,25,26]. Liver biopsy is considered the gold standard for diagnosis albeit associated with the risk of cholangitis.…”

“…The clinical, epidemiological and biological characteristics of CHF are summarized in Table 2 [19,21]. Clinically, CHF and CS/CD present as firm hepatomegaly with or without cholangitis.…”

“…If the fibrosis is associated with abnormal cystic dilatation of the intrahepatic bile ducts, the association is known as Caroli syndrome. Finally, a third form, Caroli disease, is characterized by the same saccular or fusiform dilatation of larger and proximal intrahepatic ducts but without fibrosis [19][20][21]. CHF and CD/CS exist both as isolated liver involvement and in association with renal disease [22][23][24].…”

Pathology of Pediatric Gastrointestinal and Liver Disease

“…In the typical neonatal form, the infant has bilateral masses in the fl anks at birth and survives only a few days. Congenital hepatic fi brosis (CHF) is most often associated with ARPKD but may also manifest as part of the spectrum of other polycystic renal disorders and has been described without renal involvement (Rawat et al 2013 ). The hepatic lesion is relatively uniform in appearance and macroscopically visible cysts are uncommon.…”

“…This is of interest in view of the recent identifi cation of the PKHD1 gene, which in addition to the kidney and liver, is also expressed in the pancreas (Ward et al 2002 ). Cholangitis developed in 25 % of children at a median age of 5 years, according to one recent study (Rawat et al 2013 ), and is typically associated with dilatation of the intrahepatic bile ducts (Fig. The notion that isolated CHF is a separate disease from ARPKD has been challenged by the report that a similar level of PKHD1 mutations is found in presumed isolated CHF as in ARPKD (Adeva et al 2006 ).…”