Viana M B, Giugliani R, Leite V H, Barth M L, Lekhwani C, Slade C M, Fensom A
Department of Pediatrics, Federal University of Minas Gerais, Brazil.
J Med Genet. 1990 Aug;27(8):499-504. doi: 10.1136/jmg.27.8.499.
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.
在一个患有非神经型尼曼-匹克病的巴西家族的12名同胞中，有4人检测出血清高密度脂蛋白胆固醇水平极低，范围在8.6至13.9毫克/分升之间。所有患病儿童均有肝脾肿大、肺部间质浸润、无神经体征、骨髓和肝脏中有海蓝色组织细胞，以及血清酸性磷酸酶值较高（18至32 U/l）。白细胞酸性鞘磷脂酶活性为平均对照值的3.6%至6.5%，成纤维细胞活性为平均对照值的9%至13%。父母的水平略低于正常。这些发现之间的关系尚不清楚，值得进一步研究。
