Granata A, Basile A, Figuera M, Mignani R, Fiore C E
Department of Nephrology, Dialysis and Internal Medicine, Catania, Italy.
Clin Nephrol. 2009 Apr;71(4):441-4. doi: 10.5414/cnp71441.
Tuberous sclerosis complex (TSC) is a genetic and systemic disorder characterized by benign hamartomatous tumors that involve multiple organ systems. The classical clinical triad of TSC consists of seizure, adenoma sebaceum (facial angiofibromata) and mental retardation. Renal angiomyolipomas are documented in approximately 40 - 80% of tuberous sclerosis patients and usually are small and asymptomatic. Less frequently nodules are large and lead to retroperitoneal hemorrhage. In these cases diagnosis can be difficult but definitive only after the histological examination or the systemic investigation of other possible tissue involvements. We describe the case of a 28 year old woman who came to the emergency department with acute postprandial abdominal pain and severe anemia due to hemorrhagic renal angiomyolipoma treated by nephrectomy in whom the following examination led to the diagnosis of TSC.
结节性硬化症（TSC）是一种遗传性全身性疾病，其特征为累及多个器官系统的良性错构瘤。TSC的典型临床三联征包括癫痫发作、皮脂腺瘤（面部血管纤维瘤）和智力迟钝。约40%-80%的结节性硬化症患者有肾血管平滑肌脂肪瘤，通常较小且无症状。较少见的情况是结节较大并导致腹膜后出血。在这些病例中，诊断可能困难，只有在组织学检查或对其他可能受累组织进行全身检查后才能确诊。我们描述了一名28岁女性的病例，她因出血性肾血管平滑肌脂肪瘤导致急性餐后腹痛和严重贫血而到急诊科就诊，接受了肾切除术，以下检查最终诊断为TSC。
