Cooper L, Wertheimer J, Levey R, Brown E, Leboff M, Wilkinson R, Anast C S
Pediatrics. 1986 Aug;78(2):263-8.
A neonate with severe primary hyperparathyroidism was successfully managed by parathyroidectomy and heterotopic autotransplantation (one third of one gland of the infant was implanted in the forearm). In vitro studies of parathyroid tissue from the infant revealed a severe defect in parathyroid suppressibility. Postoperatively, the infant had modest hypercalcemia, normal serum immunoreactive parathyroid hormone levels, hypermagnesemia, and relative hypocalciuria. The parents were related and both had asymptomatic hypercalcemia with mean serum immunoreactive parathyroid hormone levels that were within the normal range. Similar to the findings in the infant postoperatively, relative hypocalciuria in the presence of hypercalcemia was found in the mother; in contrast, the father had hypercalciuria. The presumed dominantly transmitted hypercalcemia in this kindred is consistent with familial hypocalciuric hypercalcemia with a confounding factor of ethanol possibly accounting for the hypercalciuria in the father.
一名患有严重原发性甲状旁腺功能亢进症的新生儿通过甲状旁腺切除术和异位自体移植（将婴儿一个腺体的三分之一植入前臂）成功得到治疗。对该婴儿甲状旁腺组织的体外研究显示甲状旁腺抑制功能存在严重缺陷。术后，该婴儿有轻度高钙血症、正常的血清免疫反应性甲状旁腺激素水平、高镁血症和相对低钙尿症。父母是亲属关系，两人均有无症状高钙血症，平均血清免疫反应性甲状旁腺激素水平在正常范围内。与婴儿术后的发现相似，母亲存在高钙血症时相对低钙尿症；相比之下，父亲有高钙尿症。这个家族中推测为显性遗传的高钙血症与家族性低钙尿性高钙血症一致，乙醇这个混杂因素可能是导致父亲高钙尿症的原因。
