Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.
Indian Pediatr. 2011 Oct;48(10):805-6.
Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.
患有单纯性高甘油三酯血症的患者通常表现为反复发作的腹痛、胰腺炎、发疹性黄色瘤、脂血症视网膜病变和肝脾肿大。我们描述了一名严重高甘油三酯血症婴儿的诊断和治疗。该患儿被发现脂蛋白脂肪酶基因存在两个新的杂合突变。
