Yang X Y, Zhu L P, Liu X Q, Zhang C Y, Yao Y, Wu Y
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Department of General Practice, Shenzhen Longhua District Central Hospital, Shenzhen 518110, Guangdong, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2018 Apr 18;50(2):335-339.
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 non-symptomatic 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 of various complications for an appropriate intervention, meantime to devote efforts to the genetic counseling work for the patients' family.
本病例报告讲述的是中国一名经基因诊断为卡罗利综合征合并常染色体隐性多囊肾病（ARPKD）的婴儿病例。该病例报告中的患者是一名8个月大的男婴，起病不典型，主要临床表现为肝脏和肾脏无症状性肿大。影像学检查显示肝内胆管弥漫性囊性扩张以及双侧肾脏多囊样改变。基本血液生化检查表明肝肾功能正常。四项肝纤维化血清生物标志物均升高，早期肾损伤尿检呈阳性。基因测序证实多囊肾病和肝病1（PKHD1）基因存在两个杂合错义突变，分别为c.9292G>A和c.2507T>C，分别遗传自其父母。前者是一个新突变，已通过预测软件验证为致病突变，而后者曾在最近一项关于中国双胞胎的病例研究中报道，在中国人群中可能是独一无二的。基因类型与临床表型之间的关系尚未明确。直至出院11个月后的随访时，患者肝肾功能正常，尚未发生任何严重并发症。婴儿期卡罗利综合征合并ARPKD的临床症状不典型，肝脏和肾脏肿大通常是唯一症状。通过上述系统回顾性临床分析以及相关文献综述得出结论，卡罗利综合征合并ARPKD患者的肝肾影像学特征具有特异性。基因检测结合影像学检查有助于明确诊断，并与其他肝肾纤维囊性疾病相鉴别。对于这类患者的长期管理而言，有必要定期随访以监测肝肾功能及各种并发症的发生情况以便进行适当干预，同时要为患者家属开展基因咨询工作。
