Elderman Jan H, ter Borg Pieter C J, Dees Jan, Dees Adriaan
Department of Medicine, Ikazia Hospital, Rotterdam, The Netherlands.
Department of Gastroenterology, Ikazia Hospital, Rotterdam, The Netherlands.
BMJ Case Rep. 2015 Jan 22;2015:bcr2014206919. doi: 10.1136/bcr-2014-206919.
Cholelithiasis is a common problem in the Western world. Recurrent gallstones after cholecystectomy, however, are rare. We describe a case of a young woman with recurrent gallstones after a laparoscopic cholecystectomy leading to cholangitis during pregnancy. Additional testing revealed an ATP-binding cassette B4 (ABCB4) gene mutation. ABCB4 gene mutations leading to a multidrug resistance (MDR)3-P-glycoprotein deficiency are related to, among other diseases, recurrent cholelithiasis. Medical treatment consists of administering oral ursodeoxycholic acid. If untreated, MDR3 deficiency can lead to progressive liver failure requiring liver transplantation.
胆结石在西方世界是一个常见问题。然而，胆囊切除术后复发性胆结石却很罕见。我们描述了一例年轻女性病例，她在腹腔镜胆囊切除术后出现复发性胆结石，并在孕期引发了胆管炎。进一步检测发现了ATP结合盒转运体B4（ABCB4）基因突变。导致多药耐药（MDR）3-P糖蛋白缺乏的ABCB4基因突变与复发性胆结石等多种疾病有关。药物治疗包括口服熊去氧胆酸。如果不进行治疗，MDR3缺乏可能导致进行性肝衰竭，需要进行肝移植。
