Kalinke Lukas, Rashid Mohammed
Department of Acute Medicine, Princess Royal Hospital, Haywards Heath, UK.
BMJ Case Rep. 2013 Apr 30;2013:bcr2012008417. doi: 10.1136/bcr-2012-008417.
A 28-year-old man with hereditary spherocytosis presented with abdominal pain and jaundice. He had severe, mainly conjugated (642 μmol/l), hyperbilirubinaemia (1033 μmol/l), with elevated liver enzymes: alkaline phosphatase (ALP) (163 IU/l), γ-glutamyltransferase (gGT) (277 IU/l) and aspartate transaminase (AST) (358 IU/l). Abdominal ultrasound and magnetic resonance cholangiopancreatography (MRCP) showed gallstones in the gallbladder but an absence of biliary duct dilation. Liver biopsy was consistent with cholestasis but showed no large duct obstruction. The cause of the cholestasis was unclear, was it a primary intrahepatic pathology or secondary to a posthepatic cause? He presented with similar symptoms days later with gallstones in the bile duct (choledocholithiasis) and underwent endoscopic retrograde cholangiopancreatography (ERCP) and cholecystectomy. This report guides one through the assessment of jaundice and serves as an example whereby the diagnosis of a common cause of illness is blurred by an atypical clinical presentation and relevant comorbidities. A diagnosis of benign recurrent intrahepatic cholestasis (BRIC) is also considered.
一名患有遗传性球形红细胞增多症的28岁男性出现腹痛和黄疸。他有严重的高胆红素血症（主要为结合胆红素，642 μmol/l，总胆红素1033 μmol/l），伴有肝酶升高：碱性磷酸酶（ALP）（163 IU/l）、γ-谷氨酰转移酶（gGT）（277 IU/l）和天冬氨酸转氨酶（AST）（358 IU/l）。腹部超声和磁共振胆胰管造影（MRCP）显示胆囊中有胆结石，但无胆管扩张。肝活检符合胆汁淤积，但未显示大导管阻塞。胆汁淤积的原因尚不清楚，是原发性肝内病变还是继发于肝后性病因？几天后，他再次出现类似症状，胆管中有胆结石（胆总管结石），并接受了内镜逆行胰胆管造影（ERCP）和胆囊切除术。本报告指导人们对黄疸进行评估，并作为一个例子说明，非典型临床表现和相关合并症如何使常见疾病的诊断变得模糊不清。同时也考虑了良性复发性肝内胆汁淤积（BRIC）的诊断。
