Wang Lina, Ni Dawei, Zhong Lin, Wang Jianbo
Department of Urology, The First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning 116011, P.R. China.
Department of Urology, The Second People's Hospital of Hefei, Hefei, Anhui 230011, P.R. China.
Oncol Lett. 2017 Dec;14(6):7099-7106. doi: 10.3892/ol.2017.7165. Epub 2017 Oct 10.
Tuberous sclerosis complex (TSC) is an autosomal dominant disease involving multiple organs, but there are a limited number of reports on family TSC. In the present report, a case of a 52-year-old female with a familial genetic TSC, associated with bilateral giant renal angiomyolipoma, was described. The mother, second elder brother and daughter of the patient all exhibited TSC, but the clinical manifestations, and therapeutic prognosis between the family members were not the same. The present case report aimed at identifying an effective diagnostic method and treatment through additional study of familial genetic TSC, in order to prolong and improve the quality of life for patients with TSC. According to the present case and relevant literature reviews, it is suggested that fetal gene detection during pregnancy could prevent the passing of this disease onto further generations. Furthermore, early application of drug treatment may control the development of the disease in diagnosed patients. The combination of classical treatments with a small dose of mammalian target of rapamycin inhibitors is the typical recommendation, which may control the development of the disease more effectively and decrease adverse side-effects.
结节性硬化症（TSC）是一种累及多个器官的常染色体显性疾病，但关于家族性TSC的报道数量有限。在本报告中，描述了一例52岁患有家族性遗传性TSC的女性病例，该病例伴有双侧巨大肾血管平滑肌脂肪瘤。患者的母亲、二哥和女儿均表现出TSC，但家庭成员之间的临床表现和治疗预后并不相同。本病例报告旨在通过对家族性遗传性TSC的进一步研究，确定一种有效的诊断方法和治疗方法，以延长TSC患者的生命并提高其生活质量。根据本病例及相关文献综述，建议孕期进行胎儿基因检测以防止该疾病遗传给后代。此外，早期应用药物治疗可能控制已确诊患者疾病的发展。典型的建议是将经典治疗与小剂量雷帕霉素靶蛋白抑制剂联合使用，这可能更有效地控制疾病发展并减少不良反应。
