Abstract：
BACKGROUND: COACH syndrome is a rare autosomal recessive genetic disease characterized by liver fibrosis, which leads to severe complications related to portal hypertension. However, only a few patients with COACH syndrome undergoing liver transplantation (LT) have been reported.
METHODS: We herein report the outcomes of four children who underwent LT for COACH syndrome at our institute and review three previously reported cases to elucidate the role of LT in COACH syndrome.
RESULTS: All four patients in our institute were female, and three received living donors LT. All patients were diagnosed with COACH syndrome by genetic testing. LT was performed in these patients at 3, 7, 9, and 14 years old. The indication for LT was varices related to portal hypertension in all patients. One showed an intrapulmonary shunt. Blood tests revealed renal impairment due to nephronophthisis in three patients, and one developed renal insufficiency after LT. The liver function was maintained in all patients. A literature review revealed detailed information for three more patients. The indication for LT in these three cases was portal hypertension, such as bleeding from esophageal varices. One patient had chronic renal failure on hemodialysis at LT and underwent combined liver and kidney transplantation. Of these three previous patients, one died from hepatic failure due to de novo HCV infection 3 years after LT.
CONCLUSIONS: LT should be considered an effective treatment for COACH syndrome in patients with severe portal hypertension. However, a detailed follow-up of the renal function is necessary.
METHODS: We herein report the outcomes of four children who underwent LT for COACH syndrome at our institute and review three previously reported cases to elucidate the role of LT in COACH syndrome.
RESULTS: All four patients in our institute were female, and three received living donors LT. All patients were diagnosed with COACH syndrome by genetic testing. LT was performed in these patients at 3, 7, 9, and 14 years old. The indication for LT was varices related to portal hypertension in all patients. One showed an intrapulmonary shunt. Blood tests revealed renal impairment due to nephronophthisis in three patients, and one developed renal insufficiency after LT. The liver function was maintained in all patients. A literature review revealed detailed information for three more patients. The indication for LT in these three cases was portal hypertension, such as bleeding from esophageal varices. One patient had chronic renal failure on hemodialysis at LT and underwent combined liver and kidney transplantation. Of these three previous patients, one died from hepatic failure due to de novo HCV infection 3 years after LT.
CONCLUSIONS: LT should be considered an effective treatment for COACH syndrome in patients with severe portal hypertension. However, a detailed follow-up of the renal function is necessary.
摘要：
背景：COACH综合征是一种罕见的以肝纤维化为特征的常染色体隐性遗传病，导致与门静脉高压相关的严重并发症。然而,只有少数COACH综合征患者接受肝移植(LT)的报道.
方法：我们在此报告了在我们研究所接受了COACH综合征LT的4名儿童的结局，并回顾了以前报道的3例病例，以阐明LT在COACH综合征中的作用。
结果：我们研究所的所有四名患者均为女性，三个人接受了活体捐赠者LT。所有患者均通过基因检测诊断为COACH综合征。这些患者在3、7、9和14岁时进行LT。所有患者的LT适应症均为与门脉高压相关的静脉曲张。一个显示肺内分流。血液检查显示，三名患者因肾病导致肾功能损害，其中一人在LT后出现肾功能不全。所有患者的肝功能均得到维持。文献综述显示了另外三名患者的详细信息。在这三例中，LT的适应症是门静脉高压，比如食管静脉曲张出血.一名患者在LT时进行血液透析时患有慢性肾功能衰竭，并接受了肝肾联合移植。在这三个以前的病人中，1人死于肝移植后3年的新HCV感染导致肝功能衰竭.
结论：LT应被认为是治疗严重门脉高压患者COACH综合征的有效方法。然而,有必要对肾功能进行详细的随访.
方法：我们在此报告了在我们研究所接受了COACH综合征LT的4名儿童的结局，并回顾了以前报道的3例病例，以阐明LT在COACH综合征中的作用。
结果：我们研究所的所有四名患者均为女性，三个人接受了活体捐赠者LT。所有患者均通过基因检测诊断为COACH综合征。这些患者在3、7、9和14岁时进行LT。所有患者的LT适应症均为与门脉高压相关的静脉曲张。一个显示肺内分流。血液检查显示，三名患者因肾病导致肾功能损害，其中一人在LT后出现肾功能不全。所有患者的肝功能均得到维持。文献综述显示了另外三名患者的详细信息。在这三例中，LT的适应症是门静脉高压，比如食管静脉曲张出血.一名患者在LT时进行血液透析时患有慢性肾功能衰竭，并接受了肝肾联合移植。在这三个以前的病人中，1人死于肝移植后3年的新HCV感染导致肝功能衰竭.
结论：LT应被认为是治疗严重门脉高压患者COACH综合征的有效方法。然而,有必要对肾功能进行详细的随访.
