Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit
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DOI：
10.1002/pd.1254
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发表时间：
2005-11-01
影响因子：
3
通讯作者：
Wolf, C
中科院分区：
文献类型：
--
作者：
Chevy, F;Humbert, L;Wolf, C
目的由3 β -羟基甾醇- δ 7还原酶缺陷引起的Smith Lemli Opitz综合征（SLOS）是第一个以多种畸形描述的甾醇缺陷。超声检测到的许多形态异常缺乏特异性，其频率证明了用气相色谱-质谱法常规筛查羊水（AF）中的固醇是合理的。检查有助于提高对液体中固醇状态的认识。方法整理一系列甾醇谱。7-和8-脱氢胆固醇的积累是sls的诊断。然而，在对照房颤中，GC-MS也检测到许多其他固醇，它们的存在可能令人困惑。结果与结论除了胆固醇（其水平随胎龄变化）外，还存在微量的7-和8-脱氢胆固醇以及其他前体如去氨甾醇、羊毛甾醇和二甲基甾醇。经检测的70%的房颤样本中也含有植物甾醇。除了sls，气相色谱-质谱检查羊水还可以检测出各种与畸形相关的固醇缺陷（脂肪固醇病、硬脂病、x连锁软骨发育不良，尤其是Antley-Bixter综合征）。实际结论支持气相色谱-质谱作为常规方法来调查骨骼和中枢神经系统畸形。版权所有(c) 2005 John Wiley & Sons, Ltd。
Objectives Smith Lemli Opitz syndrome (SLOS) caused by a deficit of 3 beta-hydroxysterol-Delta 7 reductase was the first sterol deficit described with multiple malformations. The lack of specificity of many morphological abnormalities detected by ultrasound and their frequency have justified routine screening of amniotic fluid (AF) for sterols by GC-MS. The examination contributes to an improved knowledge of the sterol status in the fluid.Methods A series of sterol profiles is collated here. Accumulation of 7- and 8-dehydrocholesterol are diagnostic for SLOS. However, a number of other sterols have also been detected by GC-MS in control AF and their presence may be confusing.Results and Conclusions In addition to cholesterol, the level of which varies as function of the gestational age, lathosterol is present together with trace amounts of 7- and 8-dehydrocholesterol and other precursors such as desmosterol, lanosterol, and dimethylsterol. Phytosterols are also present in 70% of AF samples that have been tested. Besides SLOS, GC-MS examination of amniotic fluid can detect various sterol deficits associated with malformations (lathosterolosis, desmosterolosis, X-linked chondrodysplasia, and particular Antley-Bixter syndrome). Practical conclusions support GC-MS as a routine method to investigate skeletal and central nervous system malformations. Copyright (c) 2005 John Wiley & Sons, Ltd.