目的探讨胎盘ABCB4表达在妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregnancy,ICP)孕妇妊娠结局预测中的临床价值。方法选取60例ICP孕妇为实验组,同期60例产检正常孕妇为对照组,提取2组产妇分娩后胎盘组织,分析胎盘ABCB4 mRN...目的探讨胎盘ABCB4表达在妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregnancy,ICP)孕妇妊娠结局预测中的临床价值。方法选取60例ICP孕妇为实验组,同期60例产检正常孕妇为对照组,提取2组产妇分娩后胎盘组织,分析胎盘ABCB4 mRNA和蛋白表达水平,比较2组产妇妊娠结局。结果实验组胎盘组织内ABCB4 mRNA水平(7.58±1.65)低于对照组(26.35±3.54)(P<0.05),ABCB4蛋白阳性表达率(53.33%)低于对照组(95%)(P<0.05)。实验组羊水污染、胎儿窘迫、早产、新生儿窒息等不良妊娠结局发生率高于对照组(P<0.05)。结论ICP孕妇胎盘ABCB4基因、蛋白阳性表达率呈低表达,胎盘ABCB4表达水平可能是预测妊娠结局的参考指标。展开更多
BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused ...BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.展开更多
The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficie...The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficiency was associated with several cholestatic disorders,but the pathogenesis is not clear.This review highlights recent advances in the structure and function of ABCB4 gene,and the relationship between ABCB4 gene and cholestatic diseases.展开更多
目的探讨妊娠期肝内胆汁淤积症(ICP)孕妇胎盘ABCB4基因表达水平,分析其与妊娠结局的关系。方法选取2017年5月至2020年11月于延安大学咸阳医院分娩的ICP孕妇98例纳入ICP组,并将ICP组孕妇按照血清总胆汁酸水平将<40 mol/L者纳入轻度组(...目的探讨妊娠期肝内胆汁淤积症(ICP)孕妇胎盘ABCB4基因表达水平,分析其与妊娠结局的关系。方法选取2017年5月至2020年11月于延安大学咸阳医院分娩的ICP孕妇98例纳入ICP组,并将ICP组孕妇按照血清总胆汁酸水平将<40 mol/L者纳入轻度组(n=61),≥40 mol/L者纳入重度组(n=37),另选取健康孕妇50例纳入对照组,收集纳入对象娩出的胎盘绒毛组织,通过RT-PCR和免疫组化法分别检测胎盘组织ABCB4 mRNA和ABCB4蛋白表达水平,对比不同组别胎盘绒毛组织中ABCB4基因表达的差异,通过Logistic回归分析其与ICP孕妇妊娠结局的关系。结果ICP组胎盘组织中ABCB4 m RNA表达水平为7.59±2.01,明显低于对照组的26.91±3.45,ABCB4蛋白阳性表达率为58.16%,明显低于对照组的96.00%,差异均有统计学意义(P<0.05);重度组胎盘组织中ABCB4 m RNA表达水平6.57±1.29,明显低于轻度组的8.21±1.43,ABCB4蛋白阳性表达率为43.24%,明显低于轻度组的67.21%,差异均有统计学意义(P<0.05);ICP组孕妇中46例出现不良妊娠结局,发生率为46.94%;ICP组孕妇羊水污染、胎儿窘迫、早产、新生儿窒息、围生儿死亡发生率分别为25.51%、23.47%、28.57%、17.35%、8.16%,明显高于对照组的8.00%、8.00%、4.00%、4.00%、0,差异均有统计学意义(P<0.05);Logisitic回归分析结果显示,高龄、发病时孕周≤34周、疾病程度高、ABCB4蛋白阴性表达、ABCB4 m RNA低表达是ICP孕妇发生不良妊娠结局的独立危险因素(P<0.05)。结论ICP孕妇胎盘组织ABCB4基因呈现低表达状态,胎盘组织ABCB4基因表达水平与妊娠结局关系密切,ABCB4基因表达水平下降可增加不良妊娠结局风险。展开更多
基金Supported by The Department of Science and Technology of Guizhou Province,No.[2020]1Y299National Natural Science Foundation of China,No.82060123+2 种基金National Health Commission of Guizhou Province,No.gzwjk2019-1-082Doctor Start Fund of Affiliated Hospital of Guizhou Medical University,No.gyfybsky-2021-28National Natural Cultivation Fund of Affiliated Hospital of Guizhou Medical University,No.Ⅰ-2020-12.
文摘BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed.
文摘The ABCB4 gene,also called MDR3,encodes the MDR3 protein which is localized to the hepatocyte canalicular membrane and is demonstrated to be a phosphatidylcholine translocase.The recent study showed that ABCB4 deficiency was associated with several cholestatic disorders,but the pathogenesis is not clear.This review highlights recent advances in the structure and function of ABCB4 gene,and the relationship between ABCB4 gene and cholestatic diseases.
文摘目的探讨妊娠期肝内胆汁淤积症(ICP)孕妇胎盘ABCB4基因表达水平,分析其与妊娠结局的关系。方法选取2017年5月至2020年11月于延安大学咸阳医院分娩的ICP孕妇98例纳入ICP组,并将ICP组孕妇按照血清总胆汁酸水平将<40 mol/L者纳入轻度组(n=61),≥40 mol/L者纳入重度组(n=37),另选取健康孕妇50例纳入对照组,收集纳入对象娩出的胎盘绒毛组织,通过RT-PCR和免疫组化法分别检测胎盘组织ABCB4 mRNA和ABCB4蛋白表达水平,对比不同组别胎盘绒毛组织中ABCB4基因表达的差异,通过Logistic回归分析其与ICP孕妇妊娠结局的关系。结果ICP组胎盘组织中ABCB4 m RNA表达水平为7.59±2.01,明显低于对照组的26.91±3.45,ABCB4蛋白阳性表达率为58.16%,明显低于对照组的96.00%,差异均有统计学意义(P<0.05);重度组胎盘组织中ABCB4 m RNA表达水平6.57±1.29,明显低于轻度组的8.21±1.43,ABCB4蛋白阳性表达率为43.24%,明显低于轻度组的67.21%,差异均有统计学意义(P<0.05);ICP组孕妇中46例出现不良妊娠结局,发生率为46.94%;ICP组孕妇羊水污染、胎儿窘迫、早产、新生儿窒息、围生儿死亡发生率分别为25.51%、23.47%、28.57%、17.35%、8.16%,明显高于对照组的8.00%、8.00%、4.00%、4.00%、0,差异均有统计学意义(P<0.05);Logisitic回归分析结果显示,高龄、发病时孕周≤34周、疾病程度高、ABCB4蛋白阴性表达、ABCB4 m RNA低表达是ICP孕妇发生不良妊娠结局的独立危险因素(P<0.05)。结论ICP孕妇胎盘组织ABCB4基因呈现低表达状态,胎盘组织ABCB4基因表达水平与妊娠结局关系密切,ABCB4基因表达水平下降可增加不良妊娠结局风险。
