Wittenburg H, Keim V, Hoffmeister A

Language: English
References: 2
Page: 493-494
PDF size: 179.45 Kb.

ABSTRACT

A 40-year old woman presented with symptomatic intrahepatic gallstones in one liver segment only four years after cholecystectomy for cholelithiasis. Multiple small, yellow and round calculi were completely removed from the intrahepatic bile ducts via ERCP. The young age of the patient, recurrence of gallstones after cholecystectomy and intrahepatic gallstones suggested a subtype of the low-phospholipid associated cholelithiasis syndrome, a monogenic form of cholesterol cholelithiasis due to variations of the ABCB4 gene that encodes the canalicular phospholipid transporter MDR3.

REFERENCES

1. Rosmorduc O, Hermelin B, et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003; 125: 452-9.

2. Poupon R, Arrive L, Rosmorduc O. The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults. Gastroenterol Clin Biol 2010; 34: 380-7.