一名患有高胆红素血症的史密斯-勒米-奥皮茨综合征婴儿中低密度脂蛋白受体表达增加。
Increased expression of low-density lipoprotein receptors in a Smith-Lemli-Opitz infant with elevated bilirubin levels.
作者信息
Ness G C, Lopez D, Borrego O, Gilbert-Barness E
机构信息
Department of Biochemistry and Molecular Biology, College of Medicine, University of South Florida, Tampa 33612, USA.
出版信息
Am J Med Genet. 1997 Jan 31;68(3):294-9. doi: 10.1002/(sici)1096-8628(19970131)68:3<294::aid-ajmg9>3.0.co;2-m.
We report on an infant girl with severe RSH or Smith-Lemli-Opitz syndrome with hyperbilirubinemia. The infant died at age 2 months. Sterol analysis of liver and brain tissues showed marked elevations of 7-dehydrocholesterol with decreased levels of cholesterol. Immunocytochemical analysis demonstrated remarkable increases in low-density lipoprotein (LDL) receptors in these tissues, indicative of a deficiency in available cholesterol for tissue needs.
我们报告了一名患有严重的RSH或史密斯-利姆利-奥皮茨综合征并伴有高胆红素血症的女婴。该婴儿在2个月大时死亡。对肝脏和脑组织的甾醇分析显示7-脱氢胆固醇显著升高，而胆固醇水平降低。免疫细胞化学分析表明这些组织中低密度脂蛋白（LDL）受体显著增加，这表明组织所需的可用胆固醇存在缺乏。
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