PDF(Pubmed)
Abstract：
UNASSIGNED: Caroli syndrome or Caroli disease is characterized by focal dilation of the intrahepatic bile ducts, with or without congenital liver fibrosis. Mutations in the WDR19 gene can result in nephropathy, an autosomal recessive cystic kidney disease. However, this genetic mutation is clinically associated with Caroli syndrome or disease. We hypothesize that WDR19 gene mutations may contribute to extrarenal phenotypes such as Caroli disease or syndrome.
UNASSIGNED: The outpatient department received a 1-year-old male patient with persistent dilated bile ducts for over four months. Subsequent ultrasound examination revealed liver cirrhosis, splenomegaly, and cystic dilatation of the intrahepatic bile duct. He was subsequently admitted for comprehensive diagnosis and treatment. Accordingly, we performed computed tomography (CT)-hepatic portal venography, magnetic resonance-cholangiography, and the plain liver scan, the results revealed liver cirrhosis, splenomegaly, cystic dilatation of the intrahepatic bile duct, as well as atypical hyperplasia nodules in the right posterior lobe of the liver and lymphatic hyperplasia and enlargement in the porta hepatis and the space between the liver and stomach. As the possibility of early small liver cancer could not be excluded due to the presence of nodules, surgical resection was performed followed by pathological examination and whole genome exome testing. The pathological findings revealed hepatocyte swelling, hydropic degeneration, and sporadic necrosis. Fibrous tissue hyperplasia was observed in the portal vein area, along with local pseudolobule formation. Also, numerous small bile duct hyperplasia was observed with lymphocyte infiltration, which is consistent with cirrhosis. Moreover, the hepatocytes of the small focal area showed atypical hyperplasia. Considering the above findings, Caroli syndrome was diagnosed. The genetic results showed two heterozygous mutations in the WDR19 gene, c.2290delC (p.Q764Nfs*29) and c.2401G>C (p.G801R). Therefore, the child\'s intrahepatic bile duct dilatation and cirrhosis were considered as the manifestations of Caroli syndrome caused by mutations in the WDR19 gene.
UNASSIGNED: Mutations in the WDR19 gene can manifest as Caroli disease or Caroli syndrome. For the definite diagnosis of liver diseases of unknown etiology, whole exome sequencing may be more conducive.
UNASSIGNED: The outpatient department received a 1-year-old male patient with persistent dilated bile ducts for over four months. Subsequent ultrasound examination revealed liver cirrhosis, splenomegaly, and cystic dilatation of the intrahepatic bile duct. He was subsequently admitted for comprehensive diagnosis and treatment. Accordingly, we performed computed tomography (CT)-hepatic portal venography, magnetic resonance-cholangiography, and the plain liver scan, the results revealed liver cirrhosis, splenomegaly, cystic dilatation of the intrahepatic bile duct, as well as atypical hyperplasia nodules in the right posterior lobe of the liver and lymphatic hyperplasia and enlargement in the porta hepatis and the space between the liver and stomach. As the possibility of early small liver cancer could not be excluded due to the presence of nodules, surgical resection was performed followed by pathological examination and whole genome exome testing. The pathological findings revealed hepatocyte swelling, hydropic degeneration, and sporadic necrosis. Fibrous tissue hyperplasia was observed in the portal vein area, along with local pseudolobule formation. Also, numerous small bile duct hyperplasia was observed with lymphocyte infiltration, which is consistent with cirrhosis. Moreover, the hepatocytes of the small focal area showed atypical hyperplasia. Considering the above findings, Caroli syndrome was diagnosed. The genetic results showed two heterozygous mutations in the WDR19 gene, c.2290delC (p.Q764Nfs*29) and c.2401G>C (p.G801R). Therefore, the child\'s intrahepatic bile duct dilatation and cirrhosis were considered as the manifestations of Caroli syndrome caused by mutations in the WDR19 gene.
UNASSIGNED: Mutations in the WDR19 gene can manifest as Caroli disease or Caroli syndrome. For the definite diagnosis of liver diseases of unknown etiology, whole exome sequencing may be more conducive.
摘要：
■Caroli综合征或Caroli疾病的特征是肝内胆管的局灶性扩张，有或没有先天性肝纤维化。WDR19基因突变可导致肾病，常染色体隐性遗传性囊性肾病。然而,这种基因突变在临床上与Caroli综合征或疾病有关.我们假设WDR19基因突变可能导致诸如Caroli病或综合征等肾外表型。
■门诊部接收了一名1岁男性患者，其胆管持续扩张超过4个月。随后的超声检查显示肝硬化，脾肿大,肝内胆管囊性扩张。他随后入院接受全面诊断和治疗。因此，我们进行了计算机断层扫描（CT）-肝门静脉造影，磁共振-胆道造影,和肝脏平扫,结果显示肝硬化,脾肿大,肝内胆管囊性扩张，以及肝右后叶的不典型增生结节和肝门和肝胃间隙的淋巴增生和肿大。由于结节的存在，不能排除早期小肝癌的可能性，手术切除后进行病理检查和全基因组外显子组检测.病理结果提示肝细胞肿胀,积水变性,和零星的坏死.门静脉区可见纤维组织增生,以及局部假条形成。此外，观察到许多小胆管增生伴淋巴细胞浸润，这与肝硬化是一致的。此外，小病灶区肝细胞呈不典型增生。考虑到上述发现，诊断为Caroli综合征。遗传结果显示WDR19基因有两个杂合突变,c.2290delC（p.Q764Nfs*29）和c.2401G>C（p。G801R）。因此,儿童肝内胆管扩张和肝硬化被认为是由WDR19基因突变引起的Caroli综合征的表现。
■WDR19基因的突变可表现为Caroli病或Caroli综合征。为明确诊断病因不明的肝脏疾病，全外显子组测序可能更有利。
■门诊部接收了一名1岁男性患者，其胆管持续扩张超过4个月。随后的超声检查显示肝硬化，脾肿大,肝内胆管囊性扩张。他随后入院接受全面诊断和治疗。因此，我们进行了计算机断层扫描（CT）-肝门静脉造影，磁共振-胆道造影,和肝脏平扫,结果显示肝硬化,脾肿大,肝内胆管囊性扩张，以及肝右后叶的不典型增生结节和肝门和肝胃间隙的淋巴增生和肿大。由于结节的存在，不能排除早期小肝癌的可能性，手术切除后进行病理检查和全基因组外显子组检测.病理结果提示肝细胞肿胀,积水变性,和零星的坏死.门静脉区可见纤维组织增生,以及局部假条形成。此外，观察到许多小胆管增生伴淋巴细胞浸润，这与肝硬化是一致的。此外，小病灶区肝细胞呈不典型增生。考虑到上述发现，诊断为Caroli综合征。遗传结果显示WDR19基因有两个杂合突变,c.2290delC（p.Q764Nfs*29）和c.2401G>C（p。G801R）。因此,儿童肝内胆管扩张和肝硬化被认为是由WDR19基因突变引起的Caroli综合征的表现。
■WDR19基因的突变可表现为Caroli病或Caroli综合征。为明确诊断病因不明的肝脏疾病，全外显子组测序可能更有利。
