PDF(Pubmed)
Abstract：
BACKGROUND: Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare. Early diagnosis and intervention can improve the survival rate to some extent. This study adopted the case of a 26-year-old pregnant woman to explore the clinical and imaging manifestations and progress of CD concomitant with ARPKD to enable a better understanding of the disease.
METHODS: A 26-year-old pregnant woman was admitted to our hospital for more than 2 months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25 weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier.
CONCLUSIONS: This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.
METHODS: A 26-year-old pregnant woman was admitted to our hospital for more than 2 months following the discovery of pancytopenia and increased creatinine. Ultrasonography detected an enlarged left liver lobe, widened hepatic portal vein, splenomegaly, and dilated splenic vein. In addition, both kidneys were obviously enlarged and sonolucent areas of varying sizes were visible, but color Doppler flow imaging revealed no abnormal blood flow signals. The gestational age was approximately 25 weeks, which was consistent with the actual fetal age. Polyhydramnios was detected but no other abnormalities were identified. Magnetic resonance imaging revealed that the liver was plump, and polycystic liver disease was observed near the top of the diaphragm. The T1 and T2 weighted images were the low and high signals, respectively. The bile duct was slightly dilated; the portal vein was widened; and the spleen volume was enlarged. Moreover, the volume of both kidneys had increased to an abnormal shape, with multiple, long, roundish T1 and T2 abnormal signals being observed. Magnetic resonance cholangiopancreatography revealed that intrahepatic cystic lesions were connected with intrahepatic bile ducts. The patient underwent a genetic testing, the result showed she carried two heterozygous mutations in PKHD1. The patient was finally diagnosed with CD with concomitant ARPKD. The baby underwent a genetic test three months after birth, the result showed that the patient carried one heterozygous mutations in PKHD1, which indicated the baby was a PKHD1 carrier.
CONCLUSIONS: This case demonstrates that imaging examinations are of great significance for the diagnosis and evaluation of CD with concomitant ARPKD.
摘要：
背景：Caroli病（CD）和常染色体隐性遗传性多囊肾病（ARPKD）都是常染色体隐性疾病，更常见于婴儿和儿童，对于那些活到成年的人来说是罕见的。早期诊断和干预可在一定程度上提高生存率。本研究以1例26岁孕妇为研究对象,探讨CD合并ARPKD的临床和影像学表现及进展情况,以便更好地了解本病。
方法：一名26岁的孕妇因发现全血细胞减少和肌酐升高而入院2个月以上。超声检查发现肝左叶增大，肝门静脉增宽，脾肿大,脾静脉扩张.此外,两个肾脏明显增大，可见不同大小的声波区域，但彩色多普勒血流显像未见异常血流信号。胎龄约25周,这与实际胎儿年龄一致。检测到羊水过多，但未发现其他异常。磁共振成像显示肝脏丰满,在膈肌顶部附近观察到多囊性肝病。T1和T2加权图像是低信号和高信号，分别。胆管稍扩张；门静脉增宽；脾脏体积增大。此外，两个肾脏的体积增加到异常形状，有多个，长,观察到类似圆形的T1和T2异常信号。磁共振胰胆管成像显示肝内囊性病变与肝内胆管有关。病人接受了基因检测,结果显示，她在PKHD1中携带了两个杂合突变。患者最终被诊断为伴有ARPKD的CD。婴儿出生三个月后接受了基因测试，结果显示，患者携带一个PKHD1杂合突变，这表明婴儿是PKHD1携带者。
结论：本病例显示影像学检查对CD合并ARPKD的诊断和评估具有重要意义。
方法：一名26岁的孕妇因发现全血细胞减少和肌酐升高而入院2个月以上。超声检查发现肝左叶增大，肝门静脉增宽，脾肿大,脾静脉扩张.此外,两个肾脏明显增大，可见不同大小的声波区域，但彩色多普勒血流显像未见异常血流信号。胎龄约25周,这与实际胎儿年龄一致。检测到羊水过多，但未发现其他异常。磁共振成像显示肝脏丰满,在膈肌顶部附近观察到多囊性肝病。T1和T2加权图像是低信号和高信号，分别。胆管稍扩张；门静脉增宽；脾脏体积增大。此外，两个肾脏的体积增加到异常形状，有多个，长,观察到类似圆形的T1和T2异常信号。磁共振胰胆管成像显示肝内囊性病变与肝内胆管有关。病人接受了基因检测,结果显示，她在PKHD1中携带了两个杂合突变。患者最终被诊断为伴有ARPKD的CD。婴儿出生三个月后接受了基因测试，结果显示，患者携带一个PKHD1杂合突变，这表明婴儿是PKHD1携带者。
结论：本病例显示影像学检查对CD合并ARPKD的诊断和评估具有重要意义。
