结节性硬化
医学
腹痛
TSC2
恶心
TSC1
血管平滑肌脂肪瘤
依维莫司
便秘
淋巴管平滑肌瘤病
外科
揭穿
内科学
肾
放射科
细胞凋亡
生物化学
化学
卵巢癌
癌症
PI3K/AKT/mTOR通路
作者
Grace Y. Chong,Maroun T. Chedid,Theodora A. Potretzke,Fouad T. Chebib
标识
DOI:10.1016/j.kint.2021.03.037
摘要
A 28-year-old woman with tuberous sclerosis complex presented for consideration of debulking surgery of bilateral renal angiomyolipomas (AMLs). Tuberous sclerosis was diagnosed in infancy, and her AMLs enlarged as she grew older. This caused substantial impairment in her quality of life as she experienced severe abdominal pain, postprandial pain, constipation, nausea, early satiety, weight loss, and malnutrition. In addition, her increasing abdominal girth caused emotional distress as she was frequently mistaken as being pregnant. Unfortunately, more conservative therapies to reduce tumor bulk and her symptoms were unsuccessful. Everolimus was trialed for 3 years without response, and she underwent 5 prior bilateral renal angioembolizations, which caused significant pain and failed to result in a sustained reduction in AML volume.
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