Aurbach G D
Birth Defects Orig Artic Ser. 1971 May;7(6):48-54.
There are several genetic disorders that cause abnormalities in the hormonal regulation of calcium metabolism. These include familial hyperparathyroidism, multiple endocrine adenomatosis, pseudohypoparathyroidism and kindreds with multiple cases of medullary carcinoma of the throid. The clinical characteristics of these several syndromes are outlined. Several tests of endocrine function, either determination of hormone secretory rates or biochemical manifestations of the action of hormones, are helpful in delineating genetic modes of transmissions of these disorders. radioimmunoassays are becoming important adjuncts in the diagnosis of hyperparathyroidism and medullary carcinoma of the thyroid. Determination of 3',5'-adenosine monophosphate in urine in response to parathyroid hormone allows accurate diagnosis of pseudohypoparathyroidism.
有几种遗传性疾病会导致钙代谢激素调节异常。这些疾病包括家族性甲状旁腺功能亢进、多发性内分泌腺瘤病、假性甲状旁腺功能减退以及有多个甲状腺髓样癌病例的家族。概述了这几种综合征的临床特征。几种内分泌功能测试，即激素分泌率的测定或激素作用的生化表现，有助于描述这些疾病的遗传传递模式。放射免疫测定在甲状旁腺功能亢进和甲状腺髓样癌的诊断中正变得越来越重要。测定尿中对甲状旁腺激素反应的3',5'-单磷酸腺苷可准确诊断假性甲状旁腺功能减退。
