PDF(Pubmed)
Abstract：
Williams syndrome (WS) is a rare genetic disorder with multisystem involvement associated with hypercalcemia. The cause of this hypercalcemia is poorly understood and while primarily associated with WS children, it is also observed in adults. A 51-year-old woman with intellectual disability, renal insufficiency, recurrent pancreatitis, and intermittent hypercalcemia despite partial parathyroidectomy presented with hypercalcemia to 14 mg/dL (3.49 mmol/L; normal 8.6-10.5 mg/dL [2.12-2.62 mmol/L]) at routine follow-up. Laboratory testing was notable for acute-on-chronic renal failure with unremarkable vitamin D, urine calcium, and parathyroid hormone. She presented to the emergency department and was admitted. Treatment with bisphosphonates, calcitonin, and intravenous fluids decreased calcium to 9.4 mg/dL (2.35 mmol/L) and improved kidney function. She was discharged with recommendations for increased oral hydration, a low-calcium diet, and outpatient follow-up. Her phenotype was suspicious for WS, later confirmed with genetic testing. This case exemplifies both the increased risk of hypercalcemia in WS adults and the need to consider WS in hypercalcemic adults with intellectual disability. It also serves to illustrate the importance of recognizing WS features in potentially undiagnosed adults and reviews guidelines for hypercalcemia surveillance and management in WS adults.
摘要：
威廉姆斯综合征（WS）是一种罕见的遗传性疾病，与高钙血症相关的多系统受累。这种高钙血症的原因知之甚少，虽然主要与WS儿童有关，在成人中也观察到。一名患有智力残疾的51岁女性，肾功能不全,复发性胰腺炎,和间歇性高钙血症，尽管部分甲状旁腺切除术，但在常规随访中出现高钙血症至14mg/dL（3.49mmol/L；正常8.6-10.5mg/dL[2.12-2.62mmol/L]）。实验室检测值得注意的是慢性急性肾功能衰竭，维生素D不明显，尿钙,和甲状旁腺激素.她向急诊科就诊并被录取。用双膦酸盐治疗，降钙素,静脉输液将钙降低至9.4mg/dL（2.35mmol/L）并改善肾功能。她出院时建议增加口服补水，低钙饮食,和门诊随访。她的表型怀疑是WS,后来通过基因检测证实。该病例既说明了WS成人高钙血症的风险增加，也说明有智力障碍的高钙血症成人需要考虑WS。它还可以说明在潜在未诊断的成年人中识别WS特征的重要性，并审查WS成人高钙血症监测和管理的指南。
