PDF(Pubmed)
Abstract：
UNASSIGNED: The low-phospholipid-associated cholelithiasis (LPAC) syndrome is a recently described peculiar form of cholelithiasis associated with the ATP-binding-cassette subfamily B, member 4 (ABCB4) gene deficiency. The purpose of our study was to analyse the relationship between magnetic resonance (MR) features and the genetic status of ABCB4 in people with LPAC syndrome.
UNASSIGNED: A total of 233 individuals with proven LPAC syndrome were enrolled between January 2003 and June 2018 in a retrospective single-centre study. Inclusion criteria included availability of clinical files, MR images, and genetic data. MR images were analysed by consensus among 3 senior radiologists blinded to the status of ABCB4 gene mutation.
UNASSIGNED: A total of 125 individuals (mean age at first MR imaging 40.8 years; 66% females; 48% ABCB4 variant) were included. MR abnormalities were found in 61 (49%) of the 125 individuals. Forty (67%) of the 60 individuals with an ABCB4 gene variant had MR abnormalities as compared with 21 (33%) of the 65 individuals without an ABCB4 gene variant (odds ratio [OR] 4.1, 95% CI 1.9-9.5, p = 0.0001). Compared to individuals with no variant, individuals with an ABCB4 variant were more likely to show intrahepatic macrolithiasis (56 vs. 17%; OR 6.3, 95% CI 2.6-16.2, p <0.0001), bile duct dilatation (60 vs. 18%; OR 6.5, 95% CI 2.7-16.3, p <0.0001), and at least 1 MR feature of complication (35 vs. 15%; OR 2.9, 95% CI 1.1-7.8, p <0.05).
UNASSIGNED: ABCB4-related LPAC syndrome is associated with more frequent and severe hepatobiliary MR abnormalities. This finding strongly supports the major role of the ABCB4 gene in the pathogenesis of LPAC syndrome and highlights a genotype-phenotype association in this inherited disease with genetic heterogeneity.
UNASSIGNED: ABCB4-related LPAC syndrome associated with an ABCB4 gene variant demonstrates more frequent and severe hepatobiliary MR abnormalities. This finding supports the major role of the ABCB4 gene in the pathogenesis of LPAC syndrome.
UNASSIGNED: A total of 233 individuals with proven LPAC syndrome were enrolled between January 2003 and June 2018 in a retrospective single-centre study. Inclusion criteria included availability of clinical files, MR images, and genetic data. MR images were analysed by consensus among 3 senior radiologists blinded to the status of ABCB4 gene mutation.
UNASSIGNED: A total of 125 individuals (mean age at first MR imaging 40.8 years; 66% females; 48% ABCB4 variant) were included. MR abnormalities were found in 61 (49%) of the 125 individuals. Forty (67%) of the 60 individuals with an ABCB4 gene variant had MR abnormalities as compared with 21 (33%) of the 65 individuals without an ABCB4 gene variant (odds ratio [OR] 4.1, 95% CI 1.9-9.5, p = 0.0001). Compared to individuals with no variant, individuals with an ABCB4 variant were more likely to show intrahepatic macrolithiasis (56 vs. 17%; OR 6.3, 95% CI 2.6-16.2, p <0.0001), bile duct dilatation (60 vs. 18%; OR 6.5, 95% CI 2.7-16.3, p <0.0001), and at least 1 MR feature of complication (35 vs. 15%; OR 2.9, 95% CI 1.1-7.8, p <0.05).
UNASSIGNED: ABCB4-related LPAC syndrome is associated with more frequent and severe hepatobiliary MR abnormalities. This finding strongly supports the major role of the ABCB4 gene in the pathogenesis of LPAC syndrome and highlights a genotype-phenotype association in this inherited disease with genetic heterogeneity.
UNASSIGNED: ABCB4-related LPAC syndrome associated with an ABCB4 gene variant demonstrates more frequent and severe hepatobiliary MR abnormalities. This finding supports the major role of the ABCB4 gene in the pathogenesis of LPAC syndrome.
摘要：
未经证实：低磷脂相关性胆石症（LPAC）综合征是最近描述的与ATP结合盒亚科B相关的胆石症的一种特殊形式，成员4（ABCB4）基因缺陷。我们研究的目的是分析LPAC综合征患者的磁共振（MR）特征与ABCB4遗传状态之间的关系。
UNASSIGNED：2003年1月至2018年6月，在一项回顾性单中心研究中，共纳入233名确诊为LPAC综合征的个体。纳入标准包括临床文件的可用性，MR图像,和遗传数据。通过对ABCB4基因突变状态不知情的3位资深放射科医师的共识分析MR图像。
UNASSIGNED：共纳入125名个体（首次MR成像平均年龄40.8岁；66%为女性；48%为ABCB4变异体）。在125个人中，有61人（49％）发现了MR异常。60名具有ABCB4基因变异的个体中有40名(67%)患有MR异常，而65名没有ABCB4基因变异的个体中有21名(33%)患有MR异常(比值比[OR]4.1,95%CI1.9-9.5,p=0.0001)。与没有变异的个体相比，具有ABCB4变体的个体更有可能显示肝内巨石症（56与17%；OR6.3，95%CI2.6-16.2，p<0.0001)，胆管扩张(60vs.18%；OR6.5，95%CI2.7-16.3，p<0.0001），和至少1个MR特征的并发症(35vs.15%；OR2.9，95%CI1.1-7.8，p<0.05）。
未经证实：ABCB4相关的LPAC综合征与更频繁和更严重的肝胆MR异常相关。这一发现强烈支持ABCB4基因在LPAC综合征发病机理中的主要作用，并强调了这种遗传性疾病与遗传异质性的基因型-表型关联。
未经证实：与ABCB4基因变异相关的ABCB4相关LPAC综合征表现出更频繁和更严重的肝胆MR异常。这一发现支持ABCB4基因在LPAC综合征的发病机理中的主要作用。
UNASSIGNED：2003年1月至2018年6月，在一项回顾性单中心研究中，共纳入233名确诊为LPAC综合征的个体。纳入标准包括临床文件的可用性，MR图像,和遗传数据。通过对ABCB4基因突变状态不知情的3位资深放射科医师的共识分析MR图像。
UNASSIGNED：共纳入125名个体（首次MR成像平均年龄40.8岁；66%为女性；48%为ABCB4变异体）。在125个人中，有61人（49％）发现了MR异常。60名具有ABCB4基因变异的个体中有40名(67%)患有MR异常，而65名没有ABCB4基因变异的个体中有21名(33%)患有MR异常(比值比[OR]4.1,95%CI1.9-9.5,p=0.0001)。与没有变异的个体相比，具有ABCB4变体的个体更有可能显示肝内巨石症（56与17%；OR6.3，95%CI2.6-16.2，p<0.0001)，胆管扩张(60vs.18%；OR6.5，95%CI2.7-16.3，p<0.0001），和至少1个MR特征的并发症(35vs.15%；OR2.9，95%CI1.1-7.8，p<0.05）。
未经证实：ABCB4相关的LPAC综合征与更频繁和更严重的肝胆MR异常相关。这一发现强烈支持ABCB4基因在LPAC综合征发病机理中的主要作用，并强调了这种遗传性疾病与遗传异质性的基因型-表型关联。
未经证实：与ABCB4基因变异相关的ABCB4相关LPAC综合征表现出更频繁和更严重的肝胆MR异常。这一发现支持ABCB4基因在LPAC综合征的发病机理中的主要作用。
