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Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease

Srinath, Arvind; Shneider, Benjamin L.

Journal of Pediatric Gastroenterology & Nutrition: May 2012 - Volume 54 - Issue 5 - p 580–587
doi: 10.1097/MPG.0b013e31824711b7
Invited Review

Objectives: The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosomal recessive polycystic kidney disease (ARPKD).

Methods: A systematic literature search of the data on CHF, ARPKD, Caroli disease, Caroli syndrome, and type V choledochal cyst was performed to extract data related to portal hypertension, infection, malignancy, mortality, and transplantation.

Results: Information related to 1230 patients with CHF was extracted from 155 articles. Median and mean age at diagnosis were 2 and 11.2 years, respectively. Median and mean time followed after diagnosis were 5.0 and 7.5 years, respectively (range 0–38 years). Sequelae of portal hypertension (n = 409), cholangitis (n = 152), and malignancy (n = 21) were noted. The nature of the portal hypertension was similar to that in other pediatric conditions (164 with varices, 74 bleeding varices, 81 underwent portosystemic shunting). Documented cholangitis was fatal in 3 of 23 children who were infected after renal transplantation. Twenty-one patients developed hepatobiliary cancer, with the majority having cholangiocarcinoma (n = 19). Cholangiocarcinoma (CCA) was predominant in individuals older than 40 years with either Caroli syndrome or isolated CHF, not ARPKD (median and mean age at CCA diagnosis were 70.3 and 60.1 years, respectively; range 33–75 years). There was a relative paucity of data on combined liver-kidney transplantation.

Conclusions: Clinical decision making in ARPKD should reflect an understanding of the potential issues emanating from CHF. Accepted pediatric specific approaches to portal hypertension are warranted but must take into consideration the stage of renal insufficiency and potential plans for renal transplantation. Cholangitis is a major issue and necessitates anticipatory guidance and awareness. CCA, although a dreaded complication, does not appear to be a major issue during childhood. The indications for liver and combined liver-kidney transplantation are controversial and warrant further analysis.

Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA.

Address correspondence and reprint requests to Benjamin L. Shneider, MD, Division of Pediatric Gastroenterolgy, Hepatology, and Nutrition, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Ave, Pittsburgh, PA 15224 (e-mail:

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Received 15 July, 2011

Accepted 16 December, 2011

The authors report no conflicts of interest.

Copyright 2012 by ESPGHAN and NASPGHAN