Kakinuma A, Morimoto I, Nakano Y, Fujimoto R, Ishida O, Okada Y, Inokuchi N, Fujihira T, Eto S
First Department of Internal Medicine, University of Occupational & Environmental Health, Kitakyushu.
Intern Med. 1994 Feb;33(2):123-6. doi: 10.2169/internalmedicine.33.123.
We describe a familial occurrence of primary hyperparathyroidism. The proband is a 60-year-old woman who had a parathyroid adenoma. Her older sister had a parathyroid adenoma with cementifying jaw fibroma and her younger sister died of parathyroid adenocarcinoma with pulmonary metastasis at the age of 38. We have not yet obtained evidence for other endocrine disorders suggesting multiple endocrine neoplasia (MEN) in this pedigree. The proband is complicated with Wilms' tumor. It is now widely accepted that respective predisposed genes of MEN type 1 and Wilms' tumor, and PTH gene are located on chromosome 11. The manifestation observed in this case may be related to mutational abnormalities on chromosome 11.
我们描述了一例原发性甲状旁腺功能亢进症的家族性发病情况。先证者是一名60岁的女性，患有甲状旁腺腺瘤。她的姐姐患有甲状旁腺腺瘤并伴有颌骨骨化性纤维瘤，她的妹妹在38岁时死于甲状旁腺癌伴肺转移。在这个家系中，我们尚未获得提示多发性内分泌腺瘤病（MEN）的其他内分泌疾病的证据。先证者合并有肾母细胞瘤。目前普遍认为，MEN1型和肾母细胞瘤以及甲状旁腺激素（PTH）基因各自的易感基因都位于11号染色体上。该病例中观察到的表现可能与11号染色体上的突变异常有关。
