Hutchins G M, Mirvis S E, Mendelsohn G, Bulkley B H
Am J Med. 1978 Jun;64(6):967-73. doi: 10.1016/0002-9343(78)90451-5.
Autopsy examination of a patient with well-documented supravalvular aortic stenosis and other characteristic features of the idiopathic infantile hypercalcemia syndrome revealed previously unreported hyperplasia of parafollicular cells (C cells). Immunohistochemical analysis demonstrated up to 30 calcitonin-containing cells per high power field, whereas normal glands contain only 4 to 10 cells per low power field in areas of highest concentration. The parathyroid glands were found to be normal both grossly and microscopically, whereas the bones showed thickened trabeculas, normal Haversian canals and no apparent increase in osteoblast or osteoclast activity, suggesting normal parathyroid hormone, but increased thyrocalcitonin activity. We suggest that C-cell hyperplasia has occurred in response to a persistent, rather than transient, elevation in serum calcium levels and that thyrocalcitonin function is augmented, rather than impaired in this disorder. The primary biochemical defect promoting hypercalcemia remains to be clarified, as well as the role, if any, such a defect plays in producing significant pathology in the central nervous system and in the cardiovascular, renal and skeletal systems.
对一名患有记录完备的瓣上主动脉狭窄及特发性婴儿高钙血症综合征其他特征的患者进行尸检，发现了此前未报告过的滤泡旁细胞（C细胞）增生。免疫组织化学分析显示，每高倍视野中含降钙素的细胞多达30个，而正常腺体在浓度最高的区域每低倍视野仅含4至10个细胞。甲状旁腺在大体和显微镜下均正常，而骨骼显示小梁增粗、哈弗斯管正常，成骨细胞或破骨细胞活性无明显增加，提示甲状旁腺激素正常，但甲状腺降钙素活性增加。我们认为，C细胞增生是对血清钙水平持续而非短暂升高的反应，且在该疾病中甲状腺降钙素功能增强而非受损。导致高钙血症的原发性生化缺陷以及该缺陷在中枢神经系统、心血管系统、肾脏和骨骼系统产生显著病变中所起的作用（若有）仍有待阐明。
