Department of Biochemistry and Medical Biotechnologies, University Federico II of Naples, Naples, Italy.
Clin Chem Lab Med. 2011 Aug 24;49(12):2039-46. doi: 10.1515/CCLM.2011.689.
This study reports our experience over the last six years in the diagnosis of Smith-Lemli-Opitz syndrome and other inborn errors of cholesterol biosynthesis.
Gas chromatography/mass spectrometry was used to obtain sterol profiles in plasma and erythrocyte membranes of suspected patients.
Plasma sterol reference values calculated in unaffected subjects (n=276) were in agreement with those previously reported. Among patients investigated from 2005 to 2010, we report 16 patients affected by Smith-Lemli-Opitz syndrome, three of whom represent new cases and 13 of whom were follow-up patients. In this period we also identified a new case of chondrodysplasia punctata 2 X-linked. The estimated incidence obtained for Smith-Lemli-Opitz syndrome was 1:93 suspected patients (1.08%). We also studied the effect of storage on the dehydrocholesterols/cholesterol ratio in plasma and erythrocyte membranes of patients affected by Smith-Lemli-Opitz syndrome stored at -20°C for up to 22 and 20 months, respectively. A significant negative linear correlation between storage time and the dehydrocholesterols/cholesterol ratio was identified in both plasma and erythrocyte membranes. The decrease in the dehydrocholesterols/cholesterol ratio in erythrocyte membranes was at least two-fold higher than in plasma.
The results of this study may be helpful for diagnosis and interpretation of data in patients with findings suggestive of a cholesterol biosynthesis defect.
本研究报告了我们过去六年在诊断 Smith-Lemli-Opitz 综合征和其他胆固醇生物合成先天缺陷方面的经验。
气相色谱/质谱法用于获得疑似患者血浆和红细胞膜中的甾醇谱。
在未受影响的受试者（n=276）中计算的血浆固醇参考值与先前报道的一致。在 2005 年至 2010 年期间调查的患者中，我们报告了 16 例 Smith-Lemli-Opitz 综合征患者，其中 3 例为新病例，13 例为随访患者。在此期间，我们还确定了一例新的 X 连锁软骨发育不良 2 例。Smith-Lemli-Opitz 综合征的估计发病率为 1：93 例疑似患者（1.08%）。我们还研究了储存对 Smith-Lemli-Opitz 综合征患者血浆和红细胞膜中脱氢胆固醇/胆固醇比值的影响，这些患者分别在-20°C 下储存长达 22 个月和 20 个月。在血浆和红细胞膜中均发现储存时间与脱氢胆固醇/胆固醇比值之间存在显著的负线性相关。红细胞膜中脱氢胆固醇/胆固醇比值的下降至少是血浆的两倍。
本研究的结果可能有助于诊断和解释具有胆固醇生物合成缺陷表现的患者的数据。
