Strandvik B, Gronowitz E, Enlund F, Martinsson T, Wahlström J
Department of Pediatrics and Clinical Genetics, Faculty of Medicine, Göteborg University, Göteborg, Sweden.
J Pediatr. 2001 Nov;139(5):650-5. doi: 10.1067/mpd.2001.118890.
To determine if the serum phospholipid fatty acid pattern in patients with cystic fibrosis (CF) was related to the major cystic fibrosis transmembrane conductance regulator gene mutations.
Patients with CF (n = 110) aged 3 months to 56 years were studied. Serum samples were analyzed for phospholipid fatty acid with gas-liquid chromatography, and cystic fibrosis transmembrane conductance regulator mutations were determined with standard methods.
Patients with CF had significantly lower molar percentages of linoleic acid and docosahexaenoic acid in the serum phospholipid than healthy controls (mean +/- standard deviation, 20.3 +/- 4.5 and 2.6 +/- 0.9 vs 22.4 +/- 2.2 and 3.1 +/- 0.7, respectively; P <.001). Palmitoleic and oleic acids were significantly increased (P <.001) but arachidonic acid was not different from controls. Homozygotes for DeltaF508 and heterozygotes/homozygotes for 394delTT showed significantly lower concentrations of linoleic acid and docosahexaenoic acid than the other groups. Low values were not correlated to anthropometric data or lung function. Patients with pancreatic insufficiency showed similar differences to those with sufficient pancreatic function, reflecting the different genotypes.
Serum concentrations of linoleic acid and docosahexaenoic acid were significantly lower in patients with severe cystic fibrosis transmembrane conductance regulator mutations, suggesting an association between the basic defect and abnormal essential fatty acid metabolism in CF patients.
确定囊性纤维化（CF）患者的血清磷脂脂肪酸模式是否与主要的囊性纤维化跨膜传导调节因子基因突变有关。
对年龄在3个月至56岁之间的110例CF患者进行研究。采用气液色谱法分析血清样本中的磷脂脂肪酸，并采用标准方法确定囊性纤维化跨膜传导调节因子突变。
CF患者血清磷脂中亚油酸和二十二碳六烯酸的摩尔百分比显著低于健康对照（分别为平均±标准差，20.3±4.5和2.6±0.9，而健康对照为22.4±2.2和3.1±0.7；P<.001）。棕榈油酸和油酸显著增加（P<.001），但花生四烯酸与对照无差异。ΔF508纯合子以及394delTT杂合子/纯合子的亚油酸和二十二碳六烯酸浓度显著低于其他组。低值与人体测量数据或肺功能无关。胰腺功能不全的患者与胰腺功能正常的患者表现出相似的差异，反映了不同的基因型。
严重囊性纤维化跨膜传导调节因子突变患者的血清亚油酸和二十二碳六烯酸浓度显著降低，提示CF患者的基本缺陷与必需脂肪酸代谢异常之间存在关联。
