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首页> 外文期刊>Journal of paediatrics and child health >Parent–child genetic testing for familial hypercholesterolaemia in an Australian context
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Parent–child genetic testing for familial hypercholesterolaemia in an Australian context

机译：澳大利亚语境中家族高胆固醇血症的亲子儿童遗传学试验

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Aim The aim of this study was to evaluate the clinical outcome of parent–child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Methods Parent–child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low‐density lipoprotein (LDL)‐cholesterol that best predicted a mutation and the proportional reduction in LDL‐cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL‐cholesterol. Results A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7%) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low‐dose statins, with LDL‐cholesterol falling significantly by 38% ( P 0.001). The estimated cost per mmol/L reduction of LDL‐cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost‐effective. An LDL‐cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8% and specificity of 96.6% for the detection of a mutation. Conclusion Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL‐cholesterol concentration.
机译：目的这项研究的目的是评估采用遗传检测的家族性高胆固醇血症（FH）的亲子儿童检测的临床结果，以及治疗每个孩子的可能额外成本。方法根据澳大利亚指南，进行了对FH的基因变体的亲子测试。检测到新病例的数量，低密度脂蛋白（LDL） - 评价最佳预测突变的碳酸盐和在调节蛋白处理后LDL-胆固醇的比例降低。将治疗成本计算为LDL-胆固醇的每Mmol / L的成本。结果共有126名成年患者，已知具有FH的致病性突变，以及他们的孩子们研究过。从244名鉴定的儿童中，遗传筛查了148名（60.7％）; 84名儿童被鉴定为突变阳性（M +）和64，作为突变阴性。 M +儿童中的六个已经涉及他汀类药物治疗;随后用低剂量汀类药物治疗40，LDL-胆固醇明显下降38％（P <0.001）。每麦米/米/升儿童的估计成本降低来自10至18岁的儿童的儿童的LDL-胆固醇是Au $ 1361，可能具有成本效益。 3.5mmol / L的LDL-胆固醇阈值的灵敏度为92.8％，特异性96.6％，用于检测突变。结论受FH的影响父母儿童的遗传学检测是检测FH新病例的有效方法。级联测试可使早期的他汀类药物治疗，可显着降低LDL-胆固醇浓度。

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