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目的对高三酰甘油血症新生儿及其家庭成员进行相关项目检验和临床分析。方法分别对高三酰甘油血症患儿及其父母、哥哥的乙二胺四乙酸二钾(EDTA-K2)抗凝血和不抗凝血进行全血、血浆和血清外观比较,并进行血常规、血脂、肝功能、肾功能检查和外周血红细胞形态观察。结果患儿EDTA-K2抗凝血呈粉红色,稍放置后血浆便呈现乳白色。不抗凝血待凝固后3 000 r.min-1离心5 min,血清呈重度乳糜状,用9 g.L-1盐水150稀释后外观仍呈重度混浊状。患儿父母和哥哥的全血、血浆和血清外观均正常。患儿血WBC 14.14×109L-1,N 0.237,L 0.605,RBC 2.32×1012 L-1,PLT 520×109 L-1。Hb采用血液分析仪、Hb测定仪、半自动生化分析仪均无法测出结果。总胆固醇(TCH)37.75 mmol.L-1,三酰甘油(TG)79.48 mmol.L-1,其他项目结果均无法测出或出现极端异常结果。患儿父母及哥哥血常规和肝肾功能检验结果大致正常,血涂片瑞士染色后行形态学观察,成熟红细胞体积均呈现轻度大小不均,未见异常白细胞。患儿母亲LDL-C水平和其父亲及哥哥TG水平均轻度增高。结论该患儿是三酰甘油极度增高的先天性家族型高脂蛋白血症患者。但如此高的TCH和TG血症确属罕见。
Objective To investigate the related items and clinical analysis of neonates with hypertriglyceridemia and their family members. Methods The whole blood, plasma and serum of patients with hypertriglyceridemia and their parents and elder brother were compared with EDTA-K2 anticoagulant and non-anticoagulant respectively, and the blood routine , Blood lipids, liver function, renal function tests and peripheral blood red blood cell morphology observation. Results EDTA-K2 in children with anti-coagulation pink, slightly placed the plasma showed milky white. After anticoagulant coagulation, the serum was centrifuged at 3000 r.min-1 for 5 min, and the serum was in a state of severe chylous. After diluting with 1 g of 9 g · L-1 saline, the appearance was still cloudy. Children’s parents and brother’s whole blood, plasma and serum appearance are normal. Children with blood WBC 14.14 × 109L-1, N 0.237, L 0.605, RBC 2.32 × 1012 L-1, PLT 520 × 109 L-1. Hb using blood analyzer, Hb tester, semi-automatic biochemical analyzer can not measure the results. Total cholesterol (TCH) 37.75 mmol.L-1, triglyceride (TG) 79.48 mmol.L-1, the results of other projects were unable to detect or show extreme abnormalities. Children’s parents and older children’s blood and liver and kidney function test results were generally normal, blood smears Switzerland staining morphological observation, the volume of mature erythrocytes showed mild uneven size, no abnormal white blood cells. Children with mothers LDL-C levels and his father and brother TG levels were slightly elevated. CONCLUSIONS: This patient is a congenital familial hyperlipoproteinemia with extreme hypertriglyceridemia. But such high TCH and TG blood is indeed rare.