解读孕期无症状显著高钙血症
Making (mis) sense of asymptomatic marked hypercalcemia in pregnancy.
作者信息
Maltese Giuseppe, Izatt Louise, McGowan Barbara M, Hafeez Kashif, Hubbard Johnathan G, Carroll Paul V
机构信息
Department of Diabetes and Endocrinology Guy's and St Thomas' Hospital NHS Foundation Trust London SE1 7EH UK.
Division of Clinical and Molecular Genetics Guy's and St Thomas' Hospital NHS Foundation Trust London SE1 7EH UK.
出版信息
Clin Case Rep. 2017 Aug 17;5(10):1587-1590. doi: 10.1002/ccr3.1074. eCollection 2017 Oct.
We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.
我们描述了一例罕见的病例，在孕期检测到纯合失活性钙敏感受体突变，临床表现类似原发性甲状旁腺功能亢进。在孕期，高钙血症的鉴别诊断需要谨慎对待，因为钙稳态的生理变化可能掩盖罕见的遗传疾病。
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