Hui K S, Williams J C, Borit A, Rosenberg H S
Arch Pathol Lab Med. 1985 Oct;109(10):921-5.
Pompe's disease (type II glycogenosis), an infantile form of generalized glycogenosis, is characterized biochemically by deficiency of lysosomal acid alpha-1,4-glucosidase and morphologically by intralysosomal glycogen storage in multiple organs, notably the central nervous system, heart, liver, and skeletal muscles. The endocrine system has not been described in detail in the literature. In two infants with Pompe's disease, intralysosomal glycogen was identified in the adrenal cortex and medulla, thyroid gland, parathyroid glands, pancreatic islets, and pituitary gland. Of special interest is the severe glycogen accumulation in the zona fasciculata of the adrenal glands.
庞贝氏病(II型糖原贮积症)是一种全身性糖原贮积症的婴儿型,其生化特征为溶酶体酸性α-1,4-葡萄糖苷酶缺乏,形态学特征为多个器官(尤其是中枢神经系统、心脏、肝脏和骨骼肌)的溶酶体内糖原贮积。文献中尚未对内分泌系统进行详细描述。在两名患有庞贝氏病的婴儿中,在肾上腺皮质和髓质、甲状腺、甲状旁腺、胰岛和垂体中发现了溶酶体内糖原。特别值得关注的是肾上腺束状带中严重的糖原积累。