PDF(Pubmed)
Abstract：
BACKGROUND: CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication with biliary sepsis. Our case described a 23-year-old female diagnosed as CHF combined with biliary sepsis. Her blood culture was positive for KP (Klebsiella pneumoniae), and with a high level of CA19-9 (> 1200.00 U/ml, ref: <37.00 U/ml). Meanwhile, her imaging examinations showed intrahepatic bile duct dilatation, portal hypertension, splenomegaly, and renal cysts. Liver pathology revealed periportal fibrosis and irregularly shaped proliferating bile ducts. Whole-exome sequencing identified two heterozygous missense variants c.3860T > G (p. V1287G) and c.9059T > C (p. L3020P) in PKHD1 gene. After biliary sepsis relieved, her liver function test was normal, and imaging examination results showed no significant difference with the results harvested during her biliary sepsis occurred.
CONCLUSIONS: The diagnosis of CHF complicated with biliary sepsis in the patient was made. Severely biliary sepsis due to KP infection may not inevitably aggravate congential liver abnormality in young patients. Our case provides a good reference for timely treatment of CHF patients with biliary sepsis.
CONCLUSIONS: The diagnosis of CHF complicated with biliary sepsis in the patient was made. Severely biliary sepsis due to KP infection may not inevitably aggravate congential liver abnormality in young patients. Our case provides a good reference for timely treatment of CHF patients with biliary sepsis.
摘要：
背景：CHF（先天性肝纤维化）是一种罕见的遗传性疾病，其特征是门静脉周围纤维化和导管板畸形。对胆道败血症异常并发症的CHF患者的临床表现和结果知之甚少。我们的病例描述了一名23岁的女性，被诊断为CHF合并胆道败血症。她的血培养KP（肺炎克雷伯菌）阳性，和高水平的CA19-9（>1200.00U/ml，ref:<37.00U/ml)。同时,她的影像学检查显示肝内胆管扩张，门静脉高压症,脾肿大,和肾囊肿.肝脏病理显示门静脉周围纤维化和不规则形状的胆管增生。全外显子组测序鉴定出两个杂合错义变体c.3860T>G（p。V1287G）和c.9059T>C（p。L3020P)在PKHD1基因中。胆道败血症缓解后，她的肝功能检查正常,影像学检查结果显示与她发生胆道败血症时的结果无显著差异。
结论：诊断为CHF合并胆道脓毒症。由于KP感染引起的严重胆道败血症可能不会不可避免地加重年轻患者的先天性肝异常。该病例为CHF合并胆源性脓毒症患者的及时治疗提供了很好的参考依据。
结论：诊断为CHF合并胆道脓毒症。由于KP感染引起的严重胆道败血症可能不会不可避免地加重年轻患者的先天性肝异常。该病例为CHF合并胆源性脓毒症患者的及时治疗提供了很好的参考依据。
