Penner J D, Prieur D J
Department of Veterinary Microbiology and Pathology, Washington State University, Pullman 99164-7040.
Am J Med Genet. 1987 Oct;28(2):445-54. doi: 10.1002/ajmg.1320280222.
The Chediak-Higashi syndrome (CHS) is an autosomal recessive genetic disease of humans, and clinically similar diseases occur in cats, mink, cattle, mice, killer whales, blue foxes, and silver foxes. It is characterized by incomplete albinism, increased susceptibility to infection, and the most distinctive hallmark, the presence of enlarged cytoplasmic granules in many cell types. The acid phosphatase-positive granules, lysosomes, of fibroblasts from control and CHS humans, cats, mink, cattle, and mice were examined. These studies represent the initial characterization of the lesions in fibroblasts of CHS cats, mink, and cattle. Fibroblasts from each species and genotype were stained histochemically for acid phosphatase, and morphometric analysis of the distribution of acid phosphatase-positive granules was performed. The lysosomes in the CHS fibroblasts tended to be restricted to the perinuclear area of the cytoplasm, whereas the lysosomes in the normal fibroblasts were generally more widely distributed in the cytoplasm. The lysosomes in the CHS fibroblasts of all species examined were also more enlarged and heterogeneous than those in the control fibroblasts.
切迪阿克-东综合征（CHS）是一种人类常染色体隐性遗传病，在猫、水貂、牛、小鼠、虎鲸、蓝狐和银狐中也会出现临床症状相似的疾病。其特征为不完全白化、易感染，以及最显著的标志——许多细胞类型中存在增大的细胞质颗粒。对来自对照人群以及患有CHS的人类、猫、水貂、牛和小鼠的成纤维细胞中酸性磷酸酶阳性颗粒（即溶酶体）进行了检查。这些研究是对患有CHS的猫、水貂和牛的成纤维细胞病变的初步特征描述。对每个物种和基因型的成纤维细胞进行酸性磷酸酶组织化学染色，并对酸性磷酸酶阳性颗粒的分布进行形态计量分析。患有CHS的成纤维细胞中的溶酶体往往局限于细胞质的核周区域，而正常成纤维细胞中的溶酶体通常在细胞质中分布更广泛。在所检查的所有物种的患有CHS的成纤维细胞中，溶酶体也比对照成纤维细胞中的溶酶体更大且更具异质性。
