作者通过研究一个由四代17人组成的家族.发现全部受试者中有8人以不同的组合方式存在肾炎、耳聋、先天性白内障、巨血小板减少症和白细胞包涵体.该家族与已报道过的其他家族在巨血小板减少症、中性和酸性白细胞中小而淡兰色的胞浆包涵体等血液学异常方面有差异.在光镜下,该包涵体的形态类似于中毒性Dlohle小体的包涵体和May-Hegglin异状体的包涵体,但其超微结构之形态都是独特的,此种包涵体由核糖体簇及小片段的粗面内网质(RER)构 By studying a family of 17 generations from four generations, the authors found that nephritis, deafness, congenital cataracts, thrombocytopenia, and leukocyte inclusion bodies were found in eight different combinations in eight out of ten subjects. Other families had differences in hematological abnormalities such as thrombocytopenia, small and pale blue cytoplasmic inclusions in neutral and acidic white blood cells, and the morphology of the inclusion bodies was similar to that of toxic Dlohle bodies Of inclusions and May-Hegglin isoforms, but their ultrastructures are unique. The inclusion bodies are composed of the RER structure of ribosome clusters and small fragments