Patients with Caroli Syndrome are at a high risk of developing portal hypertension and liver failure due to recurrent cholangitis and biliary obstruction.
An association between Caroli Syndrome and HPS has not been established.
Patient is a 6-year-old girl with Caroli Syndrome, autosomal recessive polycystic kidney disease, and end-stage renal disease (ESRD) status postbilateral nephrectomy on hemodialysis.
An abdominal CT scan showed mild biliary ductal dilatation and ascites associated with portal hypertension/hepatic cirrhosis, which is consistent with her history of Caroli Syndrome. An arterial blood gas on room air showed pH: 7.43, PC[O.sub.2]: 50, P[O.sub.2]: 51, HC[O.sub.3]: 33, BE: 8, and Sat: 87% with a calculated A-a gradient of 36 mmHg (normal < 15).
No previous case reports have described an association between Caroli Syndrome and HPS.
No direct relationship has been described between Hepatopulmonary Syndrome and Caroli Syndrome. We speculate that progressive liver damage with portal hypertension as sequelae of a congenital liver disorder may have similar implications to chronic liver failure in adults.
Our patient showed a triad of hypoxemia and chronic liver failure with portal hypertension secondary to Caroli Syndrome and evidence of a contrast echocardiography consistent with intrapulmonary shunting.
 PKHD1, the gene linked to ARPKD, has been found mutated in patients with Caroli syndrome
. PKHD1 is expressed primarily in the kidneys with lower levels in the liver, pancreas, and lungs, a pattern consistent with phenotype of the disease, which primarily affects the liver and kidneys.