Nwokoro N A, Mulvihill J J
Department of Oral and Maxillofacial Surgery, University of Pittsburgh, Pennsylvania 15261-1931, USA.
Am J Med Genet. 1997 Jan 31;68(3):315-21. doi: 10.1002/(sici)1096-8628(19970131)68:3<315::aid-ajmg13>3.0.co;2-w.
Tint et al. [N Engl J Med 1994, 330:107-113], working with blood samples from the Smith-Lemli-Opitz syndrome (SLOS) patients of Irons and Elias showed the biochemical basis of this disorder to be a cholesterol biosynthesis defect [Irons et al., Lancet, 1993, 341:1414]. Based on this finding, clinical protocols for cholesterol and bile acid replacement therapy were established in a few centers including the University of Pittsburgh. We report our experience with bile acid and/or cholesterol replacement therapy in six patients with SLOS, now aged 3-27 years, with a confirmed biochemical diagnosis. Levels of plasma cholesterol and 7-dehydrocholesterol were correlated with periodic clinical evaluations over 8-27 months of therapy. There was a marked improvement in the growth of all the children. There was also an increase in the plasma cholesterol level in all the children and an overall increase in their percent sterol as cholesterol. Subjective improvement was also noted in their development. Although there was no significant change in the plasma cholesterol level of the older patients, there was a marked improvement in their behavior and in their quality of life.
廷特等人[《新英格兰医学杂志》1994年，第330卷：107 - 113页]，对艾恩斯和埃利亚斯的史密斯-利姆利-奥皮茨综合征（SLOS）患者的血样进行研究，结果表明这种疾病的生化基础是胆固醇生物合成缺陷[艾恩斯等人，《柳叶刀》，1993年，第341卷：1414页]。基于这一发现，包括匹兹堡大学在内的一些中心制定了胆固醇和胆汁酸替代疗法的临床方案。我们报告了我们对6例确诊为生化诊断的SLOS患者（年龄在3 - 27岁之间）进行胆汁酸和/或胆固醇替代疗法的经验。在8 - 27个月的治疗期间，血浆胆固醇和7 - 脱氢胆固醇水平与定期临床评估相关。所有儿童的生长情况都有显著改善。所有儿童的血浆胆固醇水平也有所升高，其胆固醇形式的甾醇百分比总体增加。在他们的发育方面也注意到主观上的改善。虽然老年患者的血浆胆固醇水平没有显著变化，但他们的行为和生活质量有了显著改善。
