Morikawa Y, Matsuura N, Kakudo K, Higuchi R, Koike M, Kobayashi Y
Department of Pathology, Wakayama Medical School, Japan.
Virchows Arch A Pathol Anat Histopathol. 1993;423(3):227-31. doi: 10.1007/BF01614775.
A patient with features of Pearson's syndrome who presented with transfusion-dependent severe macrocytic anaemia, neutropenia, thrombocytopenia, and insulin-dependent diabetes mellitus in the neonatal period is described. His bone marrow was characterized by marked vacuolization of myeloid precursors and ringed sideroblasts. Autopsy examination revealed fibrosis and steatosis of the liver, reduction in the size and number of the islets, fibrosis and acinar atrophy of the pancreas, vacuolation of renal tubules, glomerulosclerosis, and "ragged red" fibres of skeletal muscles. Analysis of mitochondrial DNA (mtDNA) from the autopsied liver and skeletal muscle showed mtDNA heteroplasmy in both tissues, with one population of mtDNA deleted by 7374 bp. The deleted region was bridged by a single nucleotide, C, in normal mtDNA.
本文描述了一名患有皮尔逊综合征的患者，该患者在新生儿期出现了依赖输血的严重大细胞贫血、中性粒细胞减少、血小板减少和胰岛素依赖型糖尿病。其骨髓的特征是髓系前体细胞明显空泡化和环形铁粒幼细胞。尸检显示肝脏纤维化和脂肪变性、胰岛大小和数量减少、胰腺纤维化和腺泡萎缩、肾小管空泡化、肾小球硬化以及骨骼肌“破碎红”纤维。对尸检肝脏和骨骼肌的线粒体DNA（mtDNA）分析显示，两种组织中均存在mtDNA异质性，其中一个mtDNA群体缺失了7374 bp。在正常mtDNA中，缺失区域由单个核苷酸C连接。
