Erlinger S
Gastroenterol Clin Biol. 2009 Oct;33(10-11 Suppl):F50-5. doi: 10.1016/j.gcb.2009.07.016. Epub 2009 Sep 12.
A 35-year-old woman is referred for right upper quadrant abdominal pain and fever. She had a cholecystectomy for gallstones 4 years previously. An aunt has also had a cholecystectomy. Abdominal ultrasound examination shows numerous hyperechoic foci within the liver and some "comet tail" artifacts. Because of her age (less than 40), the recurrence of biliary symptoms after cholecystectomy, her family history and the intrahepatic hyperechoic foci, the diagnosis of low phospholipid-associated cholelithiasis (LPAC) syndrome is suspected and confirmed by the demonstration of a point mutation of the ABCB4 gene. Therapy by ursodeoxycholic acid (AUDC) is started. Symptoms improve and they disappear completely within a few weeks. The cause, pathophysiology, diagnosis and treatment are reviewed.
一名35岁女性因右上腹疼痛和发热前来就诊。她4年前因胆结石接受了胆囊切除术。她的一位阿姨也做过胆囊切除术。腹部超声检查显示肝脏内有许多高回声灶以及一些“彗尾”伪像。鉴于她的年龄（小于40岁）、胆囊切除术后胆道症状复发、家族史以及肝内高回声灶，怀疑为低磷脂相关胆石症（LPAC）综合征，并通过ABCB4基因突变的检测得以确诊。开始使用熊去氧胆酸（UDCA）进行治疗。症状有所改善，并在几周内完全消失。本文对其病因、病理生理学、诊断和治疗进行了综述。
