| Journal: | Annals of hepatology |
| Database: | PERIÓDICA |
| System number: | 000416171 |
| ISSN: | 1665-2681 |
| Authors: | Wittenburg, Henning1 Keim, Volker1 Hoffmeister, Albrecht1 |
| Institutions: | 1University of Leipzig, University Hospital of Leipzig, Leipzig. Alemania |
| Year: | 2013 |
| Volumen: | 12 |
| Number: | 3 |
| Pages: | 493-494 |
| Country: | México |
| Language: | Inglés |
| Document type: | Ilustraciones y láminas |
| Approach: | Caso clínico |
| English 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 |
| Disciplines: | Medicina |
| Keyword: | Gastroenterología, Genética, Diagnóstico, Enfermedades monogénicas, Litiasis intrahepatica, MDR3, Ultrasonido, Colangiopancreatografía retrógrada endoscópica |
| Keyword: | Gastroenterology, Geriatrics, Diagnosis, Monogenic diseases, Intrahepatic lithiasis, MDR3, Ultrasound, Endoscopic retrograde cholangiopancreatography |
| Full text: | Texto completo (Ver PDF) |
