NEONATAL FAMILIAL TYPE II HYPERLIPOPROTEINEMIA - CORD BLOOD CHOLESTEROL IN 1800 BIRTHS
NEONATAL FAMILIAL TYPE II HYPERLIPOPROTEINEMIA - CORD BLOOD CHOLESTEROL IN 1800 BIRTHS
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DOI：
10.1016/0026-0495(71)90008-4
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发表时间：
1971-01-01
影响因子：
9.8
通讯作者：
PEARCE, W
中科院分区：
文献类型：
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作者：
GLUECK, CJ;HECKMAN, F;PEARCE, W
在一家综合医院连续测量了 1800 名未经选择的活产婴儿的脐带血胆固醇。平均胆固醇 (±1 SD) 为 63.8±18.7，范围为 20–196 mg/100 ml。脐带血胆固醇水平大于 100 mg·100 ml（平均脐带血胆固醇±2 SD）被任意确定为升高。 65 名新生儿的脐带血胆固醇水平高于 100 毫克/100 毫升。在这65个婴儿中，26个亲属中父母双方都可以被研究，23个亲属中只有母亲可以被研究，16个亲属中父母双方都不能被研究。在26对父母中，9位母亲和2位父亲被发现患有II型高脂蛋白血症。在 23 名高胆固醇血症非婚生婴儿的母亲中，有 3 名被发现患有 II 型高脂蛋白血症。随后，在 1800 名连续活产婴儿中，有 14 名被鉴定为患有 II 型高脂蛋白血症的婴儿和类似受影响的母亲或父亲。这 14 个亲属所生的 10 个兄弟姐妹中有 5 个患有 II 型高脂蛋白血症。在未选择的人群中测量脐带血胆固醇为新生儿和家族性 II 型高脂蛋白血症的早期诊断提供了希望，并且应该为在出现症状或解剖动脉粥样硬化之前对儿童和年轻人进行早期治疗提供机会。
Umbilical cord blood cholesterol was measured in 1800 consecutive unselected live births in a general hospital. Mean cholesterol (±1 SD) was 63.8±18.7, range 20–196 mg 100 ml. Cord blood cholesterol levels greater than 100 mg 100 ml (mean cord blood cholesterol±2 SD) were arbitrarily identified as elevated. Sixty-five neonates had cord blood cholesterol levels greater than 100 mg 100 ml. Of these 65 infants, both parents could be studied in 26 kindred, the mother only in 23 kindred, and neither parent in 16 kindred. Of the 26 parent pairs, nine mothers and two fathers were found to have Type II hyperlipoproteinemia. Of the 23 mothers of illegitimate, hypercholesterolemic infants, three were found to have Type II hyperlipoproteinemia. An infant and similarly affected mother or father with Type II hyperlipoproteinemia were then identified in 14 of 1800 consecutive live births. Five of ten siblings born to these 14 kindred had Type II hyperlipoproteinemia. Measurement of umbilical cord blood cholesterol in unselected populations offers promise in early diagnosis of neonatal and familial Type II hyperlipoproteinemia and should provide an opportunity for early therapy in a pediatric and young adult population prior to development of symptomatic or anatomic atherosclerosis.