背景:Abernethy畸形是一种罕见的先天性血管畸形,伴有门体分流,临床上可能表现为胆汁淤积,呼吸困难,或者肝性脑病,除了其他条件。早期诊断和分型对进一步指导治疗非常重要。通常,先天性门体分流患者没有门静脉高压症的特征。在这里,我们报告了一名18岁女性,患有突出的门静脉高压症,主要表现为食管静脉曲张破裂和出血。影像学显示门静脉主干变薄,肝脏没有门静脉分支,以及由侧支循环从近端主门静脉向上引起的食管和胃静脉曲张出血。Abernethy畸形I型患者通常接受肝移植治疗,II型患者接受分流闭塞治疗,手术,或经导管卷绕。我们的患者接受了内镜手术联合药物治疗,随访24个月,没有门脉高压和肝功能良好。
方法:本病例报告描述了我们对一名18岁女性Abernethy畸形IIC型和门脉高压症的诊断和治疗经验。这种情况最初被诊断为肝硬化合并门静脉高压。患者最终通过肝脏组织学和随后的影像学检查得到诊断,治疗非常有效。要发布此案例报告,从患者获得书面知情同意书,包括附加的成像数据。
结论:Abernethy畸形IIC型可能发生门脉高压,传统非选择性β受体阻滞剂联合内镜治疗可取得较高疗效。
BACKGROUND: Abernethy malformation is a rare congenital vascular malformation with a portosystemic shunt that may clinically manifest as cholestasis, dyspnea, or hepatic encephalopathy, among other conditions. Early diagnosis and classification are very important to further guide treatment. Typically, patients with congenital portosystemic shunts have no characteristics of portal hypertension. Herein, we report an 18-year-old female with prominent portal hypertension that manifested mainly as rupture and bleeding of esophageal varices. Imaging showed a thin main portal vein, no portal vein branches in the liver, and bleeding of the esophageal and gastric varices caused by the collateral circulation upwards from the proximal main portal vein. Patients with Abernethy malformation type I are usually treated with liver transplantation, and patients with type II are treated with shunt occlusion, surgery, or transcatheter coiling. Our patient was treated with endoscopic surgery combined with drug therapy and had no portal hypertension and good hepatic function for 24 mo of follow-up.
METHODS: This case report describes our experience in the diagnosis and treatment of an 18-year-old female with Abernethy malformation type IIC and portal hypertension. This condition was initially diagnosed as cirrhosis combined with portal hypertension. The patient was ultimately diagnosed using liver histology and subsequent imaging, and the treatment was highly effective. To publish this case report, written informed consent was obtained from the patient, including the attached imaging data.
CONCLUSIONS: Abernethy malformation type IIC may develop portal hypertension, and traditional nonselective beta-blockers combined with endoscopic treatment can achieve high efficacy.