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1例32 d的女婴患有严重甘油三酯血症,医生在病历中叙述到:该患者有乳糜性微粒血症综合征的临床症状,对其父母的遗传性检查显示有普通脂蛋白脂酶基因突变(G188E)和一个新的错义突变(M301R)的复合性杂合子现象,并且伴有可观察到的减少后肝磷脂血浆脂蛋白脂肪酶免疫反应聚集现象。结论:根据笔者目前所知,这是第一个关于在脂蛋白脂肪酶基因中有M301R 突变现象的患者。另外,在治疗家族性乳糜微粒血症综合征时,加入中链甘油三酯的食物疗法,对支持这种治疗方法的有效性的作用非常明显。
A 32-year-old girl had severe triglyceridemia and the physician documented in the medical record that the patient had clinical signs of chylomicroniosis syndrome and her parents’ genetic tests showed that her lipoprotein lipids A complex heterozygote of the enzyme gene mutation (G188E) and a new missense mutation (M301R), accompanied by an observable decrease in hepatic phospholipase plasma lipoprotein lipase immune response aggregation. CONCLUSIONS: To the best of my knowledge, this is the first patient to have the M301R mutation in the lipoprotein lipase gene. In addition, the addition of medium-chain triglycerides to food therapy for the treatment of familial chylomicrone syndrome is very effective in supporting the effectiveness of this treatment.