Irons M, Elias E R, Abuelo D, Bull M J, Greene C L, Johnson V P, Keppen L, Schanen C, Tint G S, Salen G
Department of Pediatrics, Boston Floating Hospital, Tufts-New England Medical Center, Massachusetts, USA.
Am J Med Genet. 1997 Jan 31;68(3):311-4.
Patients with the RSH or Smith-Lemli-Optiz syndrome (SLOS) have an inborn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydrocholesterol. A treatment protocol consisting of administration of cholesterol +/- bile acids was initiated in an attempt to correct the biochemical abnormalities seen. Fourteen patients (8 female, 6 male: ages 2 months to 15 years) have now been treated for 6-15 months. Three patients received cholesterol alone, while 11 patients received cholesterol and one or more bile acids. Biochemical improvement in sterol levels and in the ratio of cholesterol to total sterols was noted in all patients. The most marked improvement was noted in patients presenting with initial cholesterol levels < 40 mg/dl. No toxicity was observed. Clinical improvement in growth and neurodevelopmental status was also observed.
患有鲁宾斯坦-泰比综合征（RSH）或史密斯-利姆利-奥皮茨综合征（SLOS）的患者存在胆固醇生物合成的先天性缺陷，这导致胆固醇缺乏以及胆固醇前体7-脱氢胆固醇升高。启动了一项由给予胆固醇±胆汁酸组成的治疗方案，以试图纠正所观察到的生化异常。目前已有14名患者（8名女性，6名男性；年龄2个月至15岁）接受了6至15个月的治疗。3名患者仅接受胆固醇治疗，而11名患者接受胆固醇和一种或多种胆汁酸治疗。所有患者的固醇水平以及胆固醇与总固醇的比例均有生化改善。初始胆固醇水平<40mg/dl的患者改善最为明显。未观察到毒性反应。在生长和神经发育状况方面也观察到了临床改善。
