Of three patients with familial hypobetalipoproteinemia, a 42-yeear-old white woman, who was homozygous for this autosomal dominantly inherited disease, had no detectable serum betalipoprotein and had a marked retinal pigmentary degeneration characterized by ring scotomas by Goldmann perimetry, extinguished electroretinographic responses, delayed responses and elevated thresholds during dark adaptometry, and abnoramal cone thresholds. A 4-year-old daughter and a 28-year-old niece of the first patient, who wer heterozygous, had reduced but detectable levels of serum betalipoprotein and no significant retinal pigmentary degeneration. Unlike patients with autosomal recessively inherited abetalipoproteinemia (the Bassen-Kornzweig syndrome), none of our patients had significant neurologic of cardiac defects. Although the level of serum betalipoprotein might be correlated with retinal pigmentary degeneration in familial hypobetalipoproteinemia and abetalipoproteinemia, it appears that neurologic and cardiac defects are dependent on other factors.

译文

在三名患有家族性低 β 蛋白血症的患者中,一名42岁的白人妇女因这种常染色体显性遗传疾病而纯合子,没有可检测到的血清 β 蛋白,并且具有明显的视网膜色素变性,其特征是通过Goldmann视野测定法进行的环形scotoma,消除了视网膜电图反应,延迟反应和黑暗适应测量期间的阈值升高,和abnoramal锥阈值。第一位患者的4岁女儿和28岁侄女是杂合的,血清 β 蛋白水平降低但可检测到,并且没有明显的视网膜色素变性。与常染色体隐性遗传性abetalipoproteinemia (Bassen-Kornzweig综合征) 的患者不同,我们的患者都没有明显的心脏缺陷神经系统。尽管在家族性低 β 蛋白血症和 β 蛋白血症中,血清 β 蛋白水平可能与视网膜色素变性相关,但似乎神经系统和心脏缺陷取决于其他因素。

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