PDF(Pubmed)
Abstract：
Familial hypocalciuric hypercalcemia (FHH) is marked by mild to moderate hypercalcemia, normal-elevated serum PTH levels, and relative hypocalciuria. Cinacalcet, a calcimimetic therapy, has been reported to reduce symptom burden and serum calcium levels in FHH. We report 2 adult males with chronic hypercalcemia, with initial concerns for primary hyperparathyroidism. Urine calcium screening and genetic testing confirmed FHH in both patients. Shortened QTc normalized while on cinacalcet in the first patient and reductions in serum calcium and PTH levels without symptomatic hypercalcemia were noted in the second patient. Calcimimetic therapy can potentially be offered to FHH patients, particularly those with hypercalcemia symptoms, serum calcium levels >1 mg/dL (0.25 mmol/L) above normal or at risk of cardiac arrhythmias. Cinacalcet treatment was overall well tolerated and significantly reduced serum calcium and PTH levels in 2 adult FHH patients over time. Calcimimetic therapy has shown promise in managing persistent hypercalcemia and potential adverse events in FHH patients. Potential barriers include indefinite treatment, cost, and possible adverse effects.
摘要：
家族性低钙血症高钙血症（FHH）以轻度至中度高钙血症为特征，正常升高的血清PTH水平，和相对的低钙尿。Cinacalcet,拟钙剂疗法,据报道可以降低FHH的症状负担和血清钙水平。我们报告了2名患有慢性高钙血症的成年男性，最初担心原发性甲状旁腺功能亢进。尿钙筛查和基因检测证实了两名患者的FHH。第一例患者服用西那卡塞时QTc缩短，恢复正常，第二例患者血清钙和PTH水平降低，无症状性高钙血症。拟钙疗法可以潜在地提供给FHH患者，特别是那些有高钙血症症状的人，血清钙水平>1mg/dL（0.25mmol/L）高于正常值或有心律失常的风险。Cinacalcet治疗总体耐受性良好，并且随着时间的推移，2名成年FHH患者的血清钙和PTH水平显着降低。拟钙疗法在治疗FHH患者的持续性高钙血症和潜在不良事件方面显示出希望。潜在的障碍包括无限期治疗，成本,和可能的不利影响。
