VERY LOW-LEVELS OF HIGH-DENSITY-LIPOPROTEIN CHOLESTEROL IN 4 SIBS OF A FAMILY WITH NONNEUROPATHIC NIEMANN-PICK DISEASE AND SEA-BLUE HISTIOCYTOSIS
VERY LOW-LEVELS OF HIGH-DENSITY-LIPOPROTEIN CHOLESTEROL IN 4 SIBS OF A FAMILY WITH NONNEUROPATHIC NIEMANN-PICK DISEASE AND SEA-BLUE HISTIOCYTOSIS
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DOI：
10.1136/jmg.27.8.499
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发表时间：
1990-08-01
影响因子：
4
通讯作者：
FENSOM, A
中科院分区：
文献类型：
--
作者：
VIANA, MB;GIUGLIANI, R;FENSOM, A
非常低的血清水平的高密度脂蛋白胆固醇范围从8.6至13.9毫克/分升，检测在四个巴西亲属的12个同胞与非神经性形式的尼曼-匹克病。肝脾肿大、肺间质浸润、无神经系统体征、骨髓和肝脏中的海蓝色组织细胞以及血清酸性磷酸酶的高值（18至32 U/l）在所有受影响的儿童中是常见的。白细胞酸性鞘磷脂酶活性范围为平均对照值的3.6 - 6.5%，成纤维细胞活性范围为平均对照值的9 - 13%。父母的水平低于正常水平。这些发现之间的关系尚不清楚，值得进一步研究。
Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.