In a previous blog entry (Hepatic ciliopathies), I briefly discussed congenital hepatic fibrosis (CHF). A more detailed review and handy reference: Srinath A, Shneider BL. JPGN 2012; 54: 580-87.
This invited review details information related to 1230 CHF patients from 155 articles (available at http://links.lww.com/MPG/A88). Median and mean age of diagnosis were 2 and 11.2 years respectively.
Distribution of CHF cases/associated conditions: 118 isolated CHF, 788 autosomal recessive polycystic kidney disease, 315 with Caroli disease/syndrome, 9 with type V choledochal cyst
- Sequelae of portal hypertension in 409 patients: 164 with varices, 74 with bleeding varicose, 81 underwent portosystemic shunting. Portal hypertension itself was identified in 71-97% depending on the patient subset examined.
- Cholangitis in 152 patients –often recurrent. This was fatal in 3 of 23 children after renal transplantation.
- Malignancy in 21 patients (2%). 19 were cholangiocarcinoma. Of these cases, 10/19 had Caroli disease/syndrome, 7 had isolated CHF, 1 had ARPKD, and 1 had Type V choledochal cysts. Youngest patient with cholangiocarcinoma was 33 years, all other cases involved patients >40 years.
Transplantation: Isolated kidney 91 (95% in ARPKD), Isolated liver 173 (87% had Caroli), Combined 23. Three renal patients subsequently had combined transplantation.
Other important points:
- CHF is not ‘typically associated with progressive hepatic insufficiency.’ Only rarely is hepatic synthetic function compromised
- Predisposition to cholangitis may affect transplantation decisions and timing