1Sakarya University Research and Education Hospital, Department of Endocrinology and Metabolism; Turkey.
2Sakarya University Medicine Faculty, Department of Internal Medicine; Turkey.
Georgian Med News. 2021 Oct(319):108-111.
Familial Hypocalciuric Hypercalcemia (FHH) is a rare benign condition inherited in an autosomal dominant pattern with high penetrance. This rare genetic condition is detected in approximately 2% of cases examined as primary hyperparathyroidism (PH). The Calcium Sensing Receptor (CaSR) gene's inactivating mutations result in a calcium-parathormone level-saturation curve shift to the right. Generally, the calcium level does not exceed 11,5 mg/dl and the PTH is seen normal. In our case and in her family, extreme high blood calcium levels up to 14 mg/dl and accompanying advanced parathyroid hormone levels rising up to five times the upper limit of normal were detected. Due to these high PTH levels and advanced hypercalcemia, she was thought to have PH as a primary diagnosis. The case and her family are an interesting phenomenon that do not clinically fit classical FHH.
家族性低钙血症性高钙血症（FHH）是一种罕见的良性疾病，以常染色体显性遗传方式遗传，具有高外显率。这种罕见的遗传疾病在大约 2%的甲状旁腺功能亢进症（PH）检查病例中被发现。钙敏感受体（CaSR）基因突变导致钙-甲状旁腺激素水平饱和度曲线向右移位。通常，钙水平不会超过 11.5mg/dl，甲状旁腺激素水平正常。在我们的病例和她的家族中，检测到血钙水平极高，高达 14mg/dl，同时甲状旁腺激素水平升高，高达正常值上限的五倍。由于这些高甲状旁腺激素水平和严重的高钙血症，她被认为患有原发性甲状旁腺功能亢进症。该病例及其家族是一个有趣的现象，其临床表现不符合经典的 FHH。
