Nair Nikhil, Chakraborty Ronith, Mahajan Zubin, Sharma Aditya, Sethi Sidharth K, Raina Rupesh
Department of Chemistry, Case Western Reserve University, Cleveland, OH, USA.
Akron Nephrology Associates, Cleveland Clinic Akron General, Akron, OH, USA.
J Kidney Cancer VHL. 2020 Aug 27;7(3):5-19. doi: 10.15586/jkcvhl.2020.131. eCollection 2020.
Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the or gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.
结节性硬化症(TSC)是一种由TSC1或TSC2基因发生突变引起的遗传性疾病。这两个基因中的任何一个受到破坏都会导致错构瘤蛋白或结节蛋白的产生受损,从而导致皮肤病变、肿瘤和癫痫发作。TSC可在多个器官系统中表现出来,其中皮肤和肾脏系统受影响最为常见。这些表现继而可导致高血压、慢性肾病和神经认知功能下降。TSC中最常见的肾脏病理是肾血管平滑肌脂肪瘤、肾囊肿,较少见的是嗜酸细胞瘤。在本综述中,我们重点介绍了目前对TSC肾脏表现的认识以及当前的诊断和治疗指南。