PDF(Pubmed)
Abstract：
Abernethy syndrome is a rare congenital anomaly characterized by an intrahepatic or extrahepatic portosystemic shunt. Most patients are asymptomatic; however, due to the alteration in, or lack of, a portovenous flow, patients with Abernethy syndrome are at high risk of developing sequelae of liver failure. Once these complications develop, the only definitive treatment is transplantation. Patients with Abernethy syndrome are also at a higher risk of developing benign and malignant liver lesions, including hepatic adenomas. Here, we describe the first case of deceased donor liver transplantation as a treatment for a patient with type 1 Abernethy syndrome complicated by large, unresectable hepatic adenoma, found to have focal hepatocellular carcinoma on pathologic examination. Our male patient was found to have elevated liver enzymes at age 33, during a routine outpatient medical appointment. Despite being asymptomatic, his history of prior liver resection prompted CT imaging, which revealed two large liver lesions concerning for hepatic adenomas. When surveillance imaging showed a significant growth of the liver lesions, biopsy was pursued, which confirmed a diagnosis of hepatic adenomas. However, given the size of these lesions, resection was not a viable option for the patient. Instead, the patient underwent liver transplantation at age 41, which he tolerated well. Our case demonstrates the utility of deceased donor liver transplantation as a treatment for patients with Abernethy syndrome complicated by unresectable adenomas.
摘要：
Abernethy综合征是一种罕见的先天性异常，以肝内或肝外门体分流为特征。大多数患者无症状；然而，由于改变，或者缺乏，门静脉血流,Abernethy综合征患者发生肝衰竭后遗症的风险很高。一旦出现这些并发症,唯一确定的治疗方法是移植。Abernethy综合征患者发生良性和恶性肝脏病变的风险也较高，包括肝腺瘤.这里,我们描述了第一例死亡供体肝移植作为治疗1型Abernethy综合征患者的一种治疗方法，无法切除的肝腺瘤，病理检查发现有局灶性肝细胞癌。在常规的门诊医疗预约中，我们的男性患者在33岁时被发现肝酶升高。尽管无症状，他先前的肝切除史提示CT成像，其中显示了两个与肝腺瘤有关的大肝脏病变。当监测影像学显示肝脏病变显著增长时，进行活检,证实了肝腺瘤的诊断。然而,考虑到这些病变的大小，对患者而言,切除不是一个可行的选择.相反，患者在41岁时接受了肝移植,耐受良好.我们的案例证明了已故供体肝移植作为Abernethy综合征合并不可切除腺瘤的患者的治疗方法。
