一名三岁女童的谷甾醇血症和杂合子家族性高胆固醇血症：病例报告
Sitosterolaemia and heterozygous familial hypercholesterolaemia in a three year old girl: case report.
作者信息
Nye E R, Sutherland W H, Mortimer J G, Stringer H C
机构信息
University of Otago Medical School, Dunedin.
出版信息
N Z Med J. 1988 Jun 22;101(848):418-9.
PMID:3393330
Abstract
A case of a 3 1/2 year old female child is described in which symptomless cutaneous xanthomatosis led to the diagnosis of sitosterolaemia in the presence of a defect of low-density lipoprotein uptake by cultured fibroblasts. The condition responded to treatment by cholestyramine with normalisation of the blood lipid levels. Normal growth and development continued for three years of observation.
摘要
本文描述了一名3岁半女童的病例，该女童患有无症状性皮肤黄瘤病，在培养的成纤维细胞存在低密度脂蛋白摄取缺陷的情况下，最终诊断为谷甾醇血症。该病症对消胆胺治疗有反应，血脂水平恢复正常。在三年的观察期内，患儿生长发育正常。
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