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报道1例基因学诊断明确的Caroli综合征合并常染色体隐性遗传性多囊肾病（autosomal recessive polycystic kidney disease, ARPKD）中国婴儿病例。本例患儿为8个月男婴，隐匿起病，以无症状性肝、肾肿大为主要临床表现，影像学检查提示肝内胆管囊状扩张、双肾多囊性改变，血生化检查示肝、肾功能正常，肝脏纤维化4项标记物血清水平均升高，肾早期损伤指标阳性，基因检测证实为多囊肾/多囊肝病变1基因（polycystic kidney and hepatic disease 1, PKHD1）错义杂合突变c.9292G>A、c.2507T>C，分别来自于患儿父母。前者为新发突变，经预测软件验证存在高致病性，后者目前见于1例中国双胞胎报道，可能为中国人群独有，基因型与临床表型之间关系复杂。患儿出院后11个月随访，肝、肾功能正常，尚无并发症发生。婴儿期起病的Caroli综合征合并ARPKD临床表现隐匿，肝、肾肿大通常为唯一表现。通过对该患儿的临床表现系统性回顾分析以及文献复习可以得出，Caroli综合征合并ARPKD的肝、肾影像学表现具有特征性，在影像基础上联合基因检测手段有利于明确诊断并与其他肝、肾囊性纤维化疾病进行鉴别。针对此类患儿的长期管理，应包括定期随访，密切监测肝、肾功能及各种并发症的发生，适当干预，同时做好患儿家庭的遗传咨询工作。
A case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China was reported. This case of 8-month-old baby boy, hidden onset, with asymptomatic liver and kidney enlargement as the main clinical manifestations of cystic dilatation of the intrahepatic bile duct, polycystic kidney disease changes, blood biochemical tests The liver and renal function were normal, the serum levels of four markers of liver fibrosis were elevated, the indicators of early renal injury were positive, and the gene test confirmed the polycystic kidney and hepatic disease 1 (PKHD1) The missense heterozygous mutation c.9292G & gt; A, c.2507T & gt; C, respectively, from the children’s parents. The former is a new mutation, and the software has been verified to be highly pathogenic. The latter is currently reported in one Chinese twin and may be unique to the Chinese population. The relationship between genotype and clinical phenotype is complex. Children were discharged 11 months after follow-up, liver and kidney function was normal, no complications occurred. Caroli syndrome in infancy associated with ARPKD clinical manifestations of occult, liver and kidney enlargement is usually the only performance. Through the systematic review of the clinical manifestations of children and literature review can be drawn, Caroli syndrome with ARPKD liver and kidney imaging has the characteristics of the imaging method based on the combination of genes is conducive to a clear diagnosis and other Liver, kidney cystic fibrosis disease identification. Long-term management of such children should include regular follow-up, close monitoring of liver and kidney function and the occurrence of various complications, appropriate intervention, and genetic counseling for families with children.