一名患有家族性低钙血症性高钙血症和原发性甲状旁腺功能亢进的德国患者中钙敏感受体基因的新型突变。
A novel mutation of the calcium-sensing receptor gene in a German subject with familial hypocalciuric hypercalcemia and primary hyperparathyroidism.
作者信息
Papadakis Marios, Meurer Natalie, Margariti Theodora, Meyer Anke, Weyerbrock Norbert, Dotzenrath Cornelia
机构信息
Department of Endocrine Surgery, Helios Clinic, University Hospital Witten-Herdecke, Wuppertal, Germany.
Department of Plastic and Hand Surgery, Helios Clinic, University Hospital Witten-Herdecke, Heusnerstr. 40, 42283, Wuppertal, Germany.
出版信息
Hormones (Athens). 2016 Oct;15(4):557-559. doi: 10.14310/horm.2002.1711.
OBJECTIVE
The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene.
METHOD
We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally during normal routine blood tests.
RESULTS
The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed. One week later, the follow-up blood tests revealed recurrent hypercalcemia, and the possibility of FHH was reconsidered. Genetic analysis was performed and revealed a novel heterozygous CaSR single missense mutation (Arg551Gly) within the extracellular CaSR domain.
CONCLUSION
We report a novel heterozygous missense inactivating mutation within the extracellular CaSR domain in a German subject with FHH and histologically proven PHPT.
目的
家族性低钙血症性高钙血症（FHH）与原发性甲状旁腺功能亢进症（PHPT）并存极为罕见。遗传学证据表明FHH与钙敏感受体基因失活突变的存在之间存在因果关系。
方法
我们在此报告一名60岁的德国患者，该患者因高钙血症和在正常常规血液检查中偶然发现的甲状旁腺激素（PTH）水平升高而前来就诊。
结果
患者接受了手术探查，组织学证实为PHPT。一周后，随访血液检查显示再次出现高钙血症，于是重新考虑FHH的可能性。进行了基因分析，发现在细胞外钙敏感受体（CaSR）结构域内有一个新的杂合性CaSR单错义突变（Arg551Gly）。
结论
我们报告了一名患有FHH且经组织学证实为PHPT的德国患者，其细胞外CaSR结构域内存在一种新的杂合性错义失活突变。
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