Suga S, Tamasawa N, Kinpara I, Murakami H, Kasai N, Onuma T, Ikeda Y, Takagi A, Suda T
Third Department of Internal Medicine, Hirosaki University School of Medicine, Aomori, Japan.
J Intern Med. 1998 Apr;243(4):317-21. doi: 10.1046/j.1365-2796.1998.00306.x.
We herein report a case of a 40-year-old Japanese woman (patient IT) with a history of recurrent aggravation of hypertriglyceridaemia, pancreatitis and miscarriages in three previous pregnancies. However, strict dietary intervention was applied during a fourth pregnancy. As a result, acute pancreatitis was avoided, and the patient gave birth to a healthy infant. In patient IT, the underlying etiology of the recurrent aggravation of hypertriglyceridaemia during pregnancy was a lipoprotein lipase (LPL) gene aberration. She was homozygous for LPL deficiency due to a nonsense mutation (TGG1401 --> TGA/Trp382 --> Stop) in exon 8 of the LPL gene, which resulted in the absence of LPL activity and immunoreactive LPL mass. Our findings indicate that, in LPL deficiency, pregnancy seriously exacerbates hypertriglyceridaemia and increases the risk of acute pancreatitis, which endangers both the mother and fetus. Early diagnosis of LPL deficiency and appropriate management thereof are essential for normal childbirth.
我们在此报告一例40岁的日本女性（患者IT），她有高甘油三酯血症反复加重、胰腺炎病史，且之前三次怀孕均流产。然而，在第四次怀孕期间采取了严格的饮食干预措施。结果，避免了急性胰腺炎的发生，患者生下了一个健康的婴儿。在患者IT中，孕期高甘油三酯血症反复加重的潜在病因是脂蛋白脂肪酶（LPL）基因畸变。由于LPL基因第8外显子中的无义突变（TGG1401 --> TGA/Trp382 --> Stop），她为LPL缺乏纯合子，这导致LPL活性和免疫反应性LPL质量缺失。我们的研究结果表明，在LPL缺乏的情况下，怀孕会严重加重高甘油三酯血症并增加急性胰腺炎的风险，这对母亲和胎儿都有危害。早期诊断LPL缺乏并对其进行适当管理对于正常分娩至关重要。
