基因诊断Caroli综合征合并常染色体隐性遗传性多囊肾1例及文献回顾  

Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review

作　　者：杨夕樱[1,2] 朱灵平 刘雪芹 张春雨[1] 姚勇[1] 吴晔[1] YANG Xi-ying;ZHU Ling-ping;LIU Xue-qin;ZHANG Chun-yu;YAO Yong;WU Ye(Department of Pediatrics,Peking University First Hospital,Beijing 100034,China;Department of General Practice,Shenzhen Longhua District Central Hospital,Shenzhen 518110,Guangdong,China)

机构地区：[1]北京大学第一医院儿科,北京100034 [2]中国人民解放军总医院儿科 [3]深圳市龙华区中心医院全科医学科,广东深圳518110

出　　处：《北京大学学报（医学版）》2018年第2期335-339,共5页Journal of Peking University:Health Sciences

摘　　要：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(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未明。患儿出院后11个月随访,肝、肾功能正常,尚无严重并发症发生。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。This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease(ARPKD)in China.The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was nonsymptomatic enlargement of the liver and kidneys.The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys.The basic blood biochemical tests indicated a normal hepatorenal function.Four serum biomarkers of hepatic fibrosis were all elevated and the urine test for an early detection of the renal injury was positive.The genetic sequencing proved two heterozygous missense mutations of polycystic kidney and hepatic disease 1(PKHD1)gene,c.9292G>A and c.2507T>C,inherited from each of his parents respectively.The former was a novel mutation that had been verified as disease causing through the predicting software while the latter had been reported from one recent case study on Chinese twins,which was possibly unique among Chinese population.The relations between the gene type and the clinical phenotype were not clarified yet.Up till a follow-up eleven months later after the discharge,the patient had a normal hepatorenal function without occurrence of any severe complication yet.The clinical symptoms of Caroli syndrome with ARPKD at infant stage were atypical and the enlargement of liver and kidney was usually the sole symptom.From the above systematic retrospective clinical analysis,as well as the relevant literature review,it’s been concluded that the features of the hepatorenal images in patients with Caroli syndrome and ARPKD were distinctive.Genetic testing combined with the imaging study benefits a definite diagnosis as well as a differentiation from other hepatorenal fibrocystic diseases.Specific to the long-term management of this kind of patients,it’s necessary to schedule a regular follow-up to monitor the hepatorenal function and the occurrence o

关 键 词：婴儿 Caroli综合征 多囊肾 常染色体隐性 基因 突变 

分 类 号：R725.9[医药卫生—儿科]