Laboratory of Experimental Nephrology, Renal Division, Dipartimento di Scienze della Salute, San Paolo Hospital, Università di Milano, Via A. di Rudinì, 8, 20142, Milan, Italy.
Clinical Pharmacology Unit, San Paolo Hospital, Milan, Italy.
J Nephrol. 2019 Jun;32(3):355-363. doi: 10.1007/s40620-018-0547-6. Epub 2018 Nov 7.
Tuberous sclerosis complex (TSC) is a complex disease with many different clinical manifestations. Despite the common opinion that TSC is a rare condition, with a mean incidence of 1/6000 live births and a prevalence of 1/20,000, it is increasingly evident that in reality this is not true. Its clinical sequelae span a range of multiple organ systems, in particular the central nervous system, kidneys, skin and lungs. The management of TSC patients is heavily burdensome in terms of time and healthcare costs both for the families and for the healthcare system. Management options include conservative approaches, surgery, pharmacotherapy with mammalian target of rapamycin inhibitors and recently proposed options such as therapy with anti-EGFR antibody and ultrasound-guided percutaneous microwaves. So far, however, no systematically accepted strategy has been found that is both clinically and economically efficient. Thus, decisions are tailored to patients' characteristics, resource availability and clinical and technical expertise of each single center. This paper reviews the pathophysiology and the clinical (diagnostic-therapeutic) management of TSC.
结节性硬化症（TSC）是一种具有多种临床表现的复杂疾病。尽管普遍认为 TSC 是一种罕见疾病，发病率为每 6000 例活产中有 1 例，患病率为每 20000 例中有 1 例，但越来越明显的是，实际上并非如此。其临床后果涉及多个器官系统，特别是中枢神经系统、肾脏、皮肤和肺部。TSC 患者的管理在时间和医疗保健成本方面对家庭和医疗保健系统都带来了沉重的负担。管理选项包括保守方法、手术、使用雷帕霉素靶蛋白抑制剂的药物治疗以及最近提出的一些选项，如抗 EGFR 抗体治疗和超声引导经皮微波治疗。然而，迄今为止，尚未发现既在临床上又在经济上有效的系统接受的策略。因此，决策是根据患者的特点、资源可用性以及每个中心的临床和技术专业知识量身定制的。本文综述了 TSC 的病理生理学和临床（诊断-治疗）管理。
