CAJ | 학술논문

小儿结节性硬化症(TSC)又名Bourneville病,临床表现为三联症,即癫□、智力低下和面部血管纤维瘤.本病实质为一组侵犯皮肤、神经、心脏和肾脏等多器官的常染色体显性遗传综合征.TSC患者的治疗与预后往往不同丁其他疾病所致的癫□、肾肿瘤及肺间质性疾病.近年来,在TSC的治疗方面己取得了一定进展,mTOR抑制剂可缩小室管膜下星形细胞瘤及血管纤维瘤的体积,以及改善TSC患者的肺功能.现就TSC患者的神经、肾脏及肺脏等方面的最新治疗进展进行综述.
소인결절성경화증(TSC)우명Bourneville병,림상표현위삼련증,즉전□、지력저하화면부혈관섬유류.본병실질위일조침범피부、신경、심장화신장등다기관적상염색체현성유전종합정.TSC환자적치료여예후왕왕불동정기타질병소치적전□、신종류급폐간질성질병.근년래,재TSC적치료방면기취득료일정진전,mTOR억제제가축소실관막하성형세포류급혈관섬유류적체적,이급개선TSC환자적폐공능.현취TSC환자적신경、신장급폐장등방면적최신치료진전진행종술.
The tuberous sclerosis complex (TSC) in children is also named Bourneville disease,the 3 main symptoms namely epilepsy,mental retardation and facial angiofibromas.It is an autosomal dominant disease.It is an important cause of epilepsy,skin disease,and renal and pulmonary disease in children and adults.The appropriate therapy and prognosis for TSC patients are often different than that for individuals with epilepsy,renal tumors,or interstitial lung disease from other causes.In recent years,certain progress has been made in management of tuberous sclerosis,inhibitors of the mammalian target of rapamycin (mTOR) have demonstrated regression of astrocytomas,angiofibromas,and angiomyoliomas,as well as improved pulmonary function in persons with TSC.This article reviews the current therapeutic recommendations for medical and surgical management of neurologic,renal,and pulmonary manifestations of TSC.