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首页> 外文期刊>Journal of Hepatology: The Journal of the European Association for the Study of the Liver >A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).
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A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).

机译：一项新的截短型载脂蛋白B（APO B-54.5）引起的家族性低血脂蛋白血症患者的脂肪肝疾病和血浆脂蛋白的研究。

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BACKGROUND/AIMS: Familial hypobetalipoproteinemia (FHBL) is a co-dominant disorder characterized by reduced plasma levels of low-density lipoproteins. It can be caused by mutations in the gene encoding apolipoprotein B-100 (apo B), leading to the formation of truncated apo Bs which have a reduced capacity to export lipids from the hepatocytes as lipoprotein constituents. Case reports suggest the occurrence of liver disease in FHBL, but there are no studies of liver involvement in FHBL with defined apo B gene mutations. The presence of fatty liver disease was investigated in a large FHBL kindred. METHODS: Plasma lipoprotein and apolipoprotein analysis, liver function tests, and apo B gene sequence were performed in 16 members of a FHBL kindred. The presence of fatty liver was assessed by ultrasound and computed tomography scanning. RESULTS: The proband, a non-obese heavy drinker male with hypobetalipoproteinemia, had steatohepatitis with fibrosis. He was heterozygous for a novel non-sense mutation of apo B gene producing a truncated apo B of 2745 amino acids (designated apo B-54.5, having half the size of normal apo B-100). Seven other members of his kindred carried apo B-54.5. Although all of them were hypolipidemic, their lipid levels showed a large inter-individual variability not accounted for by polymorphisms of genes involved in apo B metabolism. Four carriers (two heavy drinkers and two teetotallers), irrespective of their plasma lipid levels, had ultrasonographic evidence of fatty liver. In the other four carriers no evidence of fatty liver was found. CONCLUSIONS: In this kindred apo B-54.5 predisposes to fatty liver, which however may require some additional factors to become clinically relevant.
机译：背景/目的：家族性低血脂蛋白血症（FHBL）是一种以血浆中低密度脂蛋白水平降低为特征的共存疾病。它可能是由编码载脂蛋白B-100（apo B）的基因突变引起的，导致截短的载脂蛋白Bs的形成，这些蛋白具有降低的作为脂蛋白成分从肝细胞输出脂质的能力。病例报告表明在FHBL中发生肝脏疾病，但尚无关于apo B基因突变明确的FHBL涉及肝脏的研究。在一家大型FHBL中调查了脂肪肝疾病的存在。方法：对16名FHBL血友病患者进行血浆脂蛋白和载脂蛋白分析，肝功能检查和载脂蛋白B基因序列。通过超声和​​计算机断层扫描来评估脂肪肝的存在。结果：先证者，非肥胖重度饮酒者，低脂蛋白血症，患有脂肪性肝炎并伴有纤维化。他对apo B基因的新型无义突变产生2745个氨基酸的截短的apo B（指定为apo B-54.5，具有正常apo B-100的一半大小）是杂合的。他的其他7名成员携带载脂蛋白B-54.5。尽管它们全部都是降血脂的，但是它们的脂质水平显示出很大的个体间变异性，而这并不是由载脂蛋白B代谢相关基因的多态性引起的。超声检查显示有四名携带者（两名重度饮酒者和两名酒者），无论其血脂水平如何，均具有脂肪肝的超声检查证据。在其他四个携带者中，未发现脂肪肝的证据。结论：该种载脂蛋白B-54.5易患脂肪肝，但可能需要一些其他因素以使其具有临床相关性。

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