目的:探讨熊去氧胆酸、腺苷蛋氨酸联合多烯磷脂酰胆碱对妊娠期肝内胆汁淤积症(ICP)患者相关指标的影响。方法:回顾性分析90例ICP患者资料,按用药的不同分为对照组(45例)和观察组(45例)。对照组患者给予熊去氧胆酸片300 mg,口服,每日3次...目的:探讨熊去氧胆酸、腺苷蛋氨酸联合多烯磷脂酰胆碱对妊娠期肝内胆汁淤积症(ICP)患者相关指标的影响。方法:回顾性分析90例ICP患者资料,按用药的不同分为对照组(45例)和观察组(45例)。对照组患者给予熊去氧胆酸片300 mg,口服,每日3次+注射用丁二磺酸腺苷蛋氨酸1 g,加入5%葡萄糖注射液250 m L中,静脉滴注,每日1次。观察组患者在对照组治疗的基础上给予多烯磷脂酰胆碱注射液15 m L,加入5%葡萄糖注射液250 m L中,静脉滴注,每日1次。两组疗程均为2周。观察两组患者治疗前后瘙痒评分、血清胆汁酸(TBA)、丙氨酸转氨酶(ALT)、天冬氨酸转氨酶(AST)水平,妊娠结局及不良反应发生情况。结果:治疗前,两组患者瘙痒评分和TBA、ALT、AST水平比较,差异均无统计学意义(P>0.05)。治疗后,两组患者瘙痒评分和TBA、ALT、AST水平均显著低于同组治疗前,且观察组显著低于对照组,差异均有统计学意义(P<0.05)。观察组患者剖宫产、早产、胎儿窘迫和羊水粪染发生率均显著低于对照组,差异均有统计学意义(P<0.05)。两组患者治疗期间均未见明显不良反应发生。结论:熊去氧胆酸、腺苷蛋氨酸联合多烯磷脂酰胆碱可有效改善ICP患者的瘙痒症状、肝功能及妊娠结局,且安全性较好。展开更多
目的探讨妊娠期肝内胆汁淤积症(intrahepatic cholestasis pregnancy,ICP)不同血清总胆汁酸(total bile acid,TBA)水平及不同终止妊娠时间对围产儿结局的影响。方法回顾性分析2013年3月至2017年6月我院住院分娩的198例ICP孕妇,根据血TB...目的探讨妊娠期肝内胆汁淤积症(intrahepatic cholestasis pregnancy,ICP)不同血清总胆汁酸(total bile acid,TBA)水平及不同终止妊娠时间对围产儿结局的影响。方法回顾性分析2013年3月至2017年6月我院住院分娩的198例ICP孕妇,根据血TBA水平分为10~<40μmol/L组(Ⅰ组)、40~<100μmol/L组(Ⅱ组)以及≥100μmol/L组(Ⅲ组),又根据终止妊娠孕周分为<36周组(A组)、36~36+6周组(B组)以及≥37周组(C组),统计各组围产儿不良结局发生情况。结果与ⅠB组及ⅠC组相比,ⅠA组的围产儿不良结局显著增高(P<0.05);与ⅠC组相比,ⅠB组低体质量儿发生率显著增高(P<0.05),NICU入住和近期并发症发生率低,但差异无统计学意义(P>0.05);与ⅡB组及ⅡC组比较,ⅡA组的围产儿不良结局显著增高(P<0.05);与ⅡC组相比,ⅡB组低体重儿及近期并发症发生率高,但差异无统计学意义(P>0.05),两组新生儿均未入住NICU。Ⅲ组发病孕周均早于34周,终止妊娠孕周<36者,围产儿不良结局发生率高。结论当血TBA在10~<40μmol/L时妊娠满37周终止妊娠有利于降低围产儿不良结局发生率;当TBA在40~<100μmol/L时,妊娠36周终止妊娠是降低围产儿不良结局的节点;当TBA≥100μmol/L应根据胎儿成熟度斟酌利弊终止妊娠。展开更多
AIM: To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China. METHODS: Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal i...AIM: To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China. METHODS: Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal intrahepatic cholestasis from our center over eight years. Unrelated infants with at least one mutant allele were enrolled to calculate the proportion of SLC25A13 mutations in different regions of China. The boundary between northern and southern China was drawn at the historical border of the Yangtze River.RESULTS: A total of 63 unrelated patients (about 11% of cases with intrahepatic cholestasis) from 16 provinces or municipalities in China had mutations in the SLC25A13 gene, of these 16 (25%) were homozygotes, 28 (44%) were compound heterozygotes and 19 (30%) were heterozygotes. In addition to four well described common mutations (c.851_854del, c.1638_1660dup23, c.615+5G>A and c.1750+72_17514dup17insNM_138459.3:2667 also known as IVS16ins3kb), 13 other mutation types were identified, including three novel mutations: c.985_986insT, c.287T>C and c.1349A>G. According to the geographical division criteria, 60 mutant alleles were identified in patients from the southern areas of China, 43 alleles were identified in patients from the border, and 4 alleles were identified in patients from the northern areas of China. The proportion of four common mutations was higher in south region (56/60, 93%) than that in the border region (34/43, 79%, χ 2 = 4.621, P = 0.032) and the northern region (2/4, 50%, χ 2 = 8.288, P = 0.041). CONCLUSION: The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis.展开更多
目的探讨不同临床分度妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregnancy,ICP)处理时机与方式,以降低围产儿病率及死亡率。方法根据发病孕周及孕妇血清胆汁酸、丙氨酸转氨酶、门冬氨酸转氨酶、血清总胆红素、直接胆红素水平,...目的探讨不同临床分度妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregnancy,ICP)处理时机与方式,以降低围产儿病率及死亡率。方法根据发病孕周及孕妇血清胆汁酸、丙氨酸转氨酶、门冬氨酸转氨酶、血清总胆红素、直接胆红素水平,将ICP分为轻度与重度,分别予以不同处理,比较其终止妊娠时机和方式与围产儿结局。结果轻度ICP 291例,重度ICP 183例,终止妊娠孕周分别为(38.3±1.5)周和(35.2±1.1)周,两组比较差异有统计学意义(P<0.01);重度组胎儿宫内窘迫、新生儿窒息、早产发生率均明显高于轻度组,差异有统计学意义(P<0.01)。结论产前对ICP进行临床分度及处理,有助于选择终止妊娠时机和分娩方式,从而降低围产儿病率及死亡率。展开更多
文摘目的:探讨熊去氧胆酸、腺苷蛋氨酸联合多烯磷脂酰胆碱对妊娠期肝内胆汁淤积症(ICP)患者相关指标的影响。方法:回顾性分析90例ICP患者资料,按用药的不同分为对照组(45例)和观察组(45例)。对照组患者给予熊去氧胆酸片300 mg,口服,每日3次+注射用丁二磺酸腺苷蛋氨酸1 g,加入5%葡萄糖注射液250 m L中,静脉滴注,每日1次。观察组患者在对照组治疗的基础上给予多烯磷脂酰胆碱注射液15 m L,加入5%葡萄糖注射液250 m L中,静脉滴注,每日1次。两组疗程均为2周。观察两组患者治疗前后瘙痒评分、血清胆汁酸(TBA)、丙氨酸转氨酶(ALT)、天冬氨酸转氨酶(AST)水平,妊娠结局及不良反应发生情况。结果:治疗前,两组患者瘙痒评分和TBA、ALT、AST水平比较,差异均无统计学意义(P>0.05)。治疗后,两组患者瘙痒评分和TBA、ALT、AST水平均显著低于同组治疗前,且观察组显著低于对照组,差异均有统计学意义(P<0.05)。观察组患者剖宫产、早产、胎儿窘迫和羊水粪染发生率均显著低于对照组,差异均有统计学意义(P<0.05)。两组患者治疗期间均未见明显不良反应发生。结论:熊去氧胆酸、腺苷蛋氨酸联合多烯磷脂酰胆碱可有效改善ICP患者的瘙痒症状、肝功能及妊娠结局,且安全性较好。
文摘目的探讨妊娠期肝内胆汁淤积症(intrahepatic cholestasis pregnancy,ICP)不同血清总胆汁酸(total bile acid,TBA)水平及不同终止妊娠时间对围产儿结局的影响。方法回顾性分析2013年3月至2017年6月我院住院分娩的198例ICP孕妇,根据血TBA水平分为10~<40μmol/L组(Ⅰ组)、40~<100μmol/L组(Ⅱ组)以及≥100μmol/L组(Ⅲ组),又根据终止妊娠孕周分为<36周组(A组)、36~36+6周组(B组)以及≥37周组(C组),统计各组围产儿不良结局发生情况。结果与ⅠB组及ⅠC组相比,ⅠA组的围产儿不良结局显著增高(P<0.05);与ⅠC组相比,ⅠB组低体质量儿发生率显著增高(P<0.05),NICU入住和近期并发症发生率低,但差异无统计学意义(P>0.05);与ⅡB组及ⅡC组比较,ⅡA组的围产儿不良结局显著增高(P<0.05);与ⅡC组相比,ⅡB组低体重儿及近期并发症发生率高,但差异无统计学意义(P>0.05),两组新生儿均未入住NICU。Ⅲ组发病孕周均早于34周,终止妊娠孕周<36者,围产儿不良结局发生率高。结论当血TBA在10~<40μmol/L时妊娠满37周终止妊娠有利于降低围产儿不良结局发生率;当TBA在40~<100μmol/L时,妊娠36周终止妊娠是降低围产儿不良结局的节点;当TBA≥100μmol/L应根据胎儿成熟度斟酌利弊终止妊娠。
基金Supported by National Natural Science Foundation of China, No. 30973230 and No. 81070281
文摘AIM: To investigate the differences in the mutation spectra of the SLC25A13 gene mutations from specific regions of China. METHODS: Genetic analyses of SLC25A13 mutations were performed in 535 patients with neonatal intrahepatic cholestasis from our center over eight years. Unrelated infants with at least one mutant allele were enrolled to calculate the proportion of SLC25A13 mutations in different regions of China. The boundary between northern and southern China was drawn at the historical border of the Yangtze River.RESULTS: A total of 63 unrelated patients (about 11% of cases with intrahepatic cholestasis) from 16 provinces or municipalities in China had mutations in the SLC25A13 gene, of these 16 (25%) were homozygotes, 28 (44%) were compound heterozygotes and 19 (30%) were heterozygotes. In addition to four well described common mutations (c.851_854del, c.1638_1660dup23, c.615+5G>A and c.1750+72_17514dup17insNM_138459.3:2667 also known as IVS16ins3kb), 13 other mutation types were identified, including three novel mutations: c.985_986insT, c.287T>C and c.1349A>G. According to the geographical division criteria, 60 mutant alleles were identified in patients from the southern areas of China, 43 alleles were identified in patients from the border, and 4 alleles were identified in patients from the northern areas of China. The proportion of four common mutations was higher in south region (56/60, 93%) than that in the border region (34/43, 79%, χ 2 = 4.621, P = 0.032) and the northern region (2/4, 50%, χ 2 = 8.288, P = 0.041). CONCLUSION: The SLC25A13 mutation spectra among the three regions of China were different, providing a basis for the improvement of diagnostic strategies and interpretation of genetic diagnosis.
