气相色谱法检测极长链脂肪酸的诊断价值

Determination of plasma levels of very long chain fatty acids by gas chromatography

目的 检测已确诊为脑白质病变、并被拟诊为肾上腺白质营养不良 (ALD)的患者 ,及可疑女性基因携带者血浆极长链脂肪酸 (VLCFA)的水平 ,以明确诊断及检出杂合子。方法 应用气相色谱技术 ,检测了 83例脑白质病患者及 10例疑为基因携带者的血浆VLCFA ,包括C2 6∶0 含量 ,C2 6∶0 /C2 2∶0 和C2 4∶0 /C2 2∶0 的比值三项指标。结果 在 83例患者中 ,三项指标均显著升高者 9例 ,均不升高者6 6例 ,确诊率达 90 .4%。三项指标均中度升高和仅C2 6∶0 /C2 2∶0 和C2 4∶0 /C2 2∶0 显著升高者各 2例 ,高度怀疑为ALD。 10例可疑女性基因携带者中三项指标均显著升高者 2例 ,均不升高者 4例。结论 气相色谱技术检测血浆VLCFA的方法简便 ,结果稳定 。

Objective To determine plasma levels of very long chain fatty acids(VLCFA) of patients suspected to be undetermined type of leukoencephalopathy by MRI and diagnosed to be adrenoleukodystrophy(ALD), as well as suspected female carriers in order to verify the clinical diagnosis and detect the carriers.Methods By using gas chromatography to study plasma levels of VLCFA in 83 cases of suspected ALD and 10 cases of suspected carriers, including three markers(level of C 26∶0 , ratios of C 26∶0 /C 22∶0 and C 24∶0 /C 22∶0 )respectively.Results Among 83 cases, 9 cases had 3 markers increased and 66 cases decreased. The verification rate was 90.4%. Two cases showed moderate increase in all the 3 markers, and another 2 cases showed marked increase in C 26∶0 /C 22∶0 and C 24∶0 /C 22∶0 levels, suspected to be a probable diagnosis of ALD. Among 10 supected female carriers, 2 cases showed an increase in the 3 markers, and 4 cases a decrease.Conclusion The determination of plasma VLCFA has been considered a simple ,convenient and stable method for the verification diagnosis of ALD patients and detection of most of the carriers.