Kessling A M, Seed M, Taylor R, Wynn V, Humphries S E
Alexander Simpson Laboratory for Metabolic Research, St Mary's Hospital Medical School, London, UK.
Biomed Pharmacother. 1990;44(7):373-9. doi: 10.1016/0753-3322(90)90091-m.
Reference ranges (5th to 95th percentile) for fasting total serum cholesterol concentration were calculated for 571 unrelated children aged 4-19 years, without known predisposition to hypercholesterolaemia. Values were 3.31-5.81 mmol.l-1 for boys and 3.20-5.66 mmol.l-1 for girls, without significant differences between sexes at any age, compared to our laboratory reference ranges for men (3.46-6.87 mmol.l-1) and women (3.00-6.38 mmol.l-1). A further 85 children, each with a first degree relative with Familial Hypercholesterolaemia (FH), were studied. Initially, 39 had high cholesterol concentrations suggestive of FH. Repeated serial measurements were carried out in 18 of the 46 apparently unaffected children. Seven of these showed marked increases in serum cholesterol over 1-7 years, reaching concentrations above the 95th centiles of the appropriate reference ranges. The annual rate of increase was significantly higher than in the 11 who remained normocholesterolaemic. In 3 of these 7 children, diagnosis of FH was confirmed retrospectively, using recombinant DNA technology to show that each had inherited the defective allele of the LDL-receptor gene from an affected parent. Thus, serial cholesterol measurements may be needed to confirm or exclude FH in potential heterozygotes, while DNA studies can be used for definitive diagnosis in some families.
计算了571名4至19岁无已知高胆固醇血症易感性的非亲属儿童空腹血清总胆固醇浓度的参考范围（第5至95百分位数）。男孩的值为3.31 - 5.81 mmol·l⁻¹，女孩为3.20 - 5.66 mmol·l⁻¹，与我们实验室男性（3.46 - 6.87 mmol·l⁻¹）和女性（3.00 - 6.38 mmol·l⁻¹）的参考范围相比，各年龄段性别间无显著差异。另外对85名儿童进行了研究，他们每人都有一位患有家族性高胆固醇血症（FH）的一级亲属。最初，39名儿童胆固醇浓度高，提示患有FH。对46名明显未受影响的儿童中的18名进行了重复的系列测量。其中7名儿童在1至7年期间血清胆固醇显著升高，达到了相应参考范围第95百分位数以上的浓度。其年增长率显著高于11名胆固醇水平正常的儿童。在这7名儿童中的3名中回顾性地确诊了FH，使用重组DNA技术表明他们每人都从患病父母那里遗传了低密度脂蛋白受体基因的缺陷等位基因。因此，对于潜在的杂合子可能需要进行系列胆固醇测量以确诊或排除FH，而DNA研究可用于某些家族的确切诊断。
