Kim Kipyo, Kim Sejoong, Na Ki Young, Chae Dong-Wan, Chin Ho Jun
Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Electrolyte Blood Press. 2019 Jun;17(1):21-24. doi: 10.5049/EBP.2019.17.1.21. Epub 2019 Jun 30.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organs, including the brain, skin, lung, and kidney. Among the multiple comorbidities in TSC, bone mineral disturbances remain relatively unrecognized, and only a few studies have reported alteration in calcium homeostasis. Hypocalcemia is a serious medical condition in patients with TSC who are at high risk for seizures. Therefore, hypocalcemia should be thoroughly evaluated by obtaining a history of associated medication use and measuring vitamin D levels. Here, we report the case of a patient with TSC who presented with severe hypocalcemia which may have been related to a history of anticonvulsant use and a recent decline in kidney function, and was successfully treated with calcium and vitamin D replacement.
结节性硬化症(TSC)是一种常染色体显性遗传疾病,可累及多个器官,包括脑、皮肤、肺和肾。在TSC的多种合并症中,骨矿物质紊乱相对未得到充分认识,仅有少数研究报道了钙稳态的改变。低钙血症是TSC患者的一种严重病症,这些患者癫痫发作风险很高。因此,应通过了解相关用药史和检测维生素D水平来全面评估低钙血症。在此,我们报告一例TSC患者,该患者出现严重低钙血症,可能与抗惊厥药物使用史及近期肾功能下降有关,经补钙和补充维生素D成功治疗。