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Abstract：
BACKGROUND: Abernethy syndrome is a congenital vascular anomaly in which the portal blood completely or partially bypasses the liver through a congenital portosystemic shunt. Although the number of recognized and reported cases is gradually increasing, Abernethy syndrome is still a rare disease entity, with an estimated prevalence between 1 per 30000 to 1 per 50000 cases. With this case series, we aimed to contribute to the growing knowledge of potential clinical presentations, course and complications of congenital portosystemic shunts (CPSS) in children.
METHODS: Five children are presented in this case series: One female and four males, two with an intrahepatic CPSS and three with an extrahepatic CPSS. The first patient, who was diagnosed with an intrahepatic CPSS, presented with gastrointestinal bleeding, abdominal pain and hyperammonaemia at six years of age. He underwent a percutaneous embolization of his shunt and has remained asymptomatic ever since. The second patient presented with direct hyperbilirubinemia in the neonatal period and his intrahepatic CPSS later spontaneously regressed. The third patient had pulmonary hypertension and hyperammonaemia due to complete portal vein agenesis and underwent liver transplantation at five years of age. The fourth patient was diagnosed immediately after birth, when evaluated due to another congenital vascular anomaly, and the last patient presented as a teenager with recurrent bone fractures associated with severe osteoporosis. In addition, the last two patients are characterised by benign liver nodules; however, they are clinically stable on symptomatic therapy.
CONCLUSIONS: Abernethy syndrome is a rare anomaly with diverse clinical features, affecting almost all organ systems and presenting at any age.
METHODS: Five children are presented in this case series: One female and four males, two with an intrahepatic CPSS and three with an extrahepatic CPSS. The first patient, who was diagnosed with an intrahepatic CPSS, presented with gastrointestinal bleeding, abdominal pain and hyperammonaemia at six years of age. He underwent a percutaneous embolization of his shunt and has remained asymptomatic ever since. The second patient presented with direct hyperbilirubinemia in the neonatal period and his intrahepatic CPSS later spontaneously regressed. The third patient had pulmonary hypertension and hyperammonaemia due to complete portal vein agenesis and underwent liver transplantation at five years of age. The fourth patient was diagnosed immediately after birth, when evaluated due to another congenital vascular anomaly, and the last patient presented as a teenager with recurrent bone fractures associated with severe osteoporosis. In addition, the last two patients are characterised by benign liver nodules; however, they are clinically stable on symptomatic therapy.
CONCLUSIONS: Abernethy syndrome is a rare anomaly with diverse clinical features, affecting almost all organ systems and presenting at any age.
摘要：
背景：Abernethy综合征是一种先天性血管异常，其中门静脉血液通过先天性门体分流术完全或部分绕过肝脏。虽然已确认和报告的病例数逐渐增加,阿伯内西综合征仍然是一种罕见的疾病，估计患病率在1/30000到1/50000例之间。有了这个案例系列，我们的目标是促进潜在临床表现的知识增长，儿童先天性门体分流术（CPSS）的病程和并发症。
方法：在这个案例系列中介绍了五个孩子：一个女性和四个男性，两个肝内CPSS和三个肝外CPSS。第一个病人,被诊断患有肝内CPSS，出现消化道出血,六岁时的腹痛和高氨血症。他接受了分流的经皮栓塞术，此后一直无症状。第二名患者在新生儿期出现直接高胆红素血症，随后肝内CPSS自发消退。第三名患者由于门静脉发育不全而患有肺动脉高压和高氨血症，并在5岁时接受了肝移植。第四位病人出生后立即确诊,当由于另一种先天性血管异常进行评估时，最后一位患者在青少年时出现了与严重骨质疏松症相关的复发性骨折。此外,最后两名患者的特征是良性肝结节；然而，对症治疗后临床稳定。
结论：阿伯内西综合征是一种罕见的异常，具有不同的临床特征，影响几乎所有器官系统并出现在任何年龄。
方法：在这个案例系列中介绍了五个孩子：一个女性和四个男性，两个肝内CPSS和三个肝外CPSS。第一个病人,被诊断患有肝内CPSS，出现消化道出血,六岁时的腹痛和高氨血症。他接受了分流的经皮栓塞术，此后一直无症状。第二名患者在新生儿期出现直接高胆红素血症，随后肝内CPSS自发消退。第三名患者由于门静脉发育不全而患有肺动脉高压和高氨血症，并在5岁时接受了肝移植。第四位病人出生后立即确诊,当由于另一种先天性血管异常进行评估时，最后一位患者在青少年时出现了与严重骨质疏松症相关的复发性骨折。此外,最后两名患者的特征是良性肝结节；然而，对症治疗后临床稳定。
结论：阿伯内西综合征是一种罕见的异常，具有不同的临床特征，影响几乎所有器官系统并出现在任何年龄。
