Davies M, Klimiuk P S, Adams P H, Lumb G A, Large D M, Anderson D C
Br Med J (Clin Res Ed). 1981 Mar 28;282(6269):1023-5. doi: 10.1136/bmj.282.6269.1023.
Four families with familial hypocalciuric hypercalcaemia were studied. The probands presented with abdominal pain, which in three was due to acute pancreatitis; in two the condition was life threatening. Serum concentrations of calcium, magnesium, phosphate, and immunoassayable parathyroid hormone, urinary calcium excretion, and the rate of renal tubular reabsorption of phosphate were measured; the findings were compared with results in 10 patients with primary hyperparathyroidism matched for serum calcium concentration to establish differences between the diseases. Familial hypocalciuric hypercalcaemia should be suspected in patients with hypercalcaemia in whom daily urinary calcium excretion is below 5 mmol (200 mg) provided renal insufficiency, vitamin D deficiency, and ingestion of drugs that reduce calcium excretion have been excluded. Most cases appear to run a benign course, but some may suffer considerable morbidity. Surgical treatment should be reserved for patients with severe complications, when all parathyroid tissue should be removed.
对四个患有家族性低钙血症性高钙血症的家庭进行了研究。先证者均出现腹痛，其中三例是由急性胰腺炎引起；两例病情危及生命。检测了血清钙、镁、磷酸盐和免疫可测甲状旁腺激素的浓度、尿钙排泄量以及肾小管对磷酸盐的重吸收率；将这些结果与10例血清钙浓度匹配的原发性甲状旁腺功能亢进患者的结果进行比较，以确定两种疾病之间的差异。对于高钙血症且每日尿钙排泄量低于5 mmol（200 mg）的患者，若排除肾功能不全、维生素D缺乏以及服用减少钙排泄的药物等情况，应怀疑为家族性低钙血症性高钙血症。大多数病例似乎病情良性，但有些可能会出现相当严重的发病情况。手术治疗应仅用于有严重并发症的患者，此时应切除所有甲状旁腺组织。
