Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens
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DOI：
10.1136/adc.82.6.490
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发表时间：
2000-06-01
影响因子：
5.2
通讯作者：
Lövgren, A
中科院分区：
文献类型：
--
作者：
Starck, L;Lövgren, A
背景-Smith-Lemli-Opitz (SLO) 综合征是一种隐性遗传的代谢性疾病，伴有胆固醇缺乏和脱氢胆固醇积累，由胆固醇生物合成最后一步的缺陷引起。已经开发出用于识别受影响个体（甚至在产前）的生化方法。现在可以进行可靠的遗传咨询。 目的 - 找到一种方法来证明或反驳被怀疑患有 SLO 综合征但生前未得到证实的儿童是否确实死于 SLO 综合征。方法-使用全国新生儿代谢筛查中采集的储存滤纸血标本的脂质提取物。通过组合气相色谱-质谱法测量脱氢胆固醇与胆固醇的比率。结果-储存的滤纸样本中8-脱氢胆固醇与胆固醇的比率清楚地区分受影响的婴儿与正常婴儿。因此，SLO 综合征在两名七年多前死亡的儿童身上得到了证实。结论——即使样本是在十多年前收集的，也可以从干燥的纸标本中诊断出 SLO 综合征。在发现胆固醇合成缺陷之前死亡的受影响儿童的家庭可以获得遗传咨询。
Background-Smith-Lemli-Opitz (SLO) syndrome is a recessively inheritable metabolic disease with deficiency of cholesterol and accumulation of dehydrocholesterols, caused by a defect in the last step of cholesterol biosynthesis. Biochemical methods for identification of affected individuals, even prenatally, have been developed. Reliable genetic counselling is now possible.Aim-To find a method of proving or disproving whether a child in whom SLO syndrome had been suspected but not confirmed during lifetime had in fact died of the SLO syndrome. Methods-Lipid extracts of stored filter paper blood specimens collected at the national neonatal metabolic screening were used. The ratio of dehydrocholesterols to cholesterol was measured by combined gas chromatography-mass spectrometry.Results-The ratio of 8-dehydrocholesterol to cholesterol in stored filter paper specimens clearly distinguished affected infants fi om normal infants. SLO syndrome was thus proven in two children who had died more than seven years earlier.Conclusion-It is possible to diagnose SLO syndrome from dried paper specimens, even when the samples were collected more than a decade ago. Genetic counselling is available for families of affected children who died before the discovery of the defect in cholesterol synthesis.