Institute for Clinical Chemistry and Laboratory Medicine, University Hospital Regensburg, Regensburg, Germany.
Chem Phys Lipids. 2011 Sep;164(6):530-4. doi: 10.1016/j.chemphyslip.2011.05.001. Epub 2011 Jun 6.
Cerebrotendinous xanthomatosis (CTX) is a rare, inherited autosomal-recessive lipid-storage disorder caused by 27-hydroxylase deficiency. In this study, we report of a 30-year old man with this disorder who was treated using chenodeoxycholic acid, simvastatin, and low-density lipoprotein (LDL) apheresis. The LDL apheresis was performed weekly for nine months. The first subjective improvement was reported by the patient after his fourth LDL-apheresis. Spasticity, gait disturbances, and his entire psychomotoric test results had improved tremendously. His fine motoric skills have been regained. The efficacy of LDL-apheresis was monitored using quantitative determination of 7α-OH-4-cholesten-3-one in plasma based on a LC-MS/MS method. The clearance efficacy of 7α-hydroxy-4-cholesten-3-one from the patient's plasma per LDL-apheresis varied between 8% and 53% but returned to the initial high levels after seven days (mean value 241 ng/mL). A slight negative trend in the plasma concentration could be derived over the period of nine months.
脑腱黄瘤病（CTX）是一种罕见的、遗传性常染色体隐性脂质贮积病，由 27-羟化酶缺乏引起。本研究报道了 1 例采用鹅去氧胆酸、辛伐他汀和低密度脂蛋白（LDL）吸附治疗的 30 岁男性患者。该患者接受每周 1 次 LDL 吸附治疗，共 9 个月。第四次 LDL 吸附治疗后，患者首次出现主观改善。痉挛、步态障碍和整个运动测试结果都有了显著改善。他的精细运动技能也已恢复。采用基于 LC-MS/MS 方法的定量测定血浆中 7α-羟基-4-胆甾烯-3-酮来监测 LDL 吸附的疗效。患者血浆中 7α-羟基-4-胆甾烯-3-酮的清除率在每次 LDL 吸附治疗之间变化在 8%至 53%之间，但在 7 天后恢复到初始高水平（平均值 241ng/mL）。在 9 个月的时间里，血浆浓度呈现出轻微的负趋势。
