肾上腺脑白质营养不良临床及实验室随访研究

Follow-up study on clinical features and laboratory data of adrenoleukodystrophy

目的:研究X-连锁肾上腺脑白质营养不良的临床、生化改变及治疗情况。方法:对疑诊患儿,结合临床症状、实验室检查等确诊,给予洛伐他汀治疗。就临床症状体征,药物不良反应,实验室指标等进行动态随诊观察。结果:应用洛伐他汀治疗,能使肾上腺脑白质营养不良患儿血极长链脂肪酸水平明显下降甚至趋于正常水平,但对已出现的神经系统症状无改善作用,对尚未出现的神经系统症状有延缓出现的可能性。结论:早诊断、早治疗是减缓肾上腺脑白质营养不良患儿神经系统症状出现的有效方法。

Objective To investigate the typical clinical manifestations, biochemical change and treatment of X-linked adrenoleukodystrophy. Methods The clinical situation, adverse reactions of lovastatin and laboratory data of adrenoleukodystrophy patients treated with lovastatin were reviewed retrospectively. Results When treaded with lovastatin, the very long chain fatty acids level of X- linked adrenoleukodystrophy patients in their plasma showed lowered whereas showed unchanged in symptom of central nervous system, which reduced the possibility that adrenoleukodystrophy patients without symptom of central nervous system appeared central nervous system abnormally. Conclusion The modus operandi to slow down the appearance of symptom of nervous system of adrenoleukodystrophy patients is to diagnose and treat in their early courses.