3例结节性硬化症合并肾血管平滑肌脂肪瘤的诊断与治疗

Diagnosis and treatment of tuberous sclerosis accompanying renal angiomyolipoma:report of 3 cases

目的:探讨结节性硬化症伴巨大肾血管平滑肌瘤(AML)的临床诊治特点和自发性肾破裂出血的治疗措施。方法:报告3例结节性硬化症伴多发性双肾AML的临床诊治资料。3例均为女性,年龄16～26岁,均有典型的智力低下、面部皮脂腺瘤体症,2例因腰部剧烈胀痛伴休克入院,1例因腹胀并癫痫发作入院。3例均经CT检查证实大脑钙化结节灶。结果:1例行DSA肾肿瘤栓塞治疗,1例行肾切除术治疗,1例经抗癫痫药物治疗稳定后行肾切除治疗。3例均成功治愈出院。结论:结节性硬化症合并肾血管平滑肌脂肪瘤肿瘤巨大、症状严重、存在潜在破裂出血及可疑癌变者,可行根治切除或部分切除,破裂出血者宜首选选择性肾动脉栓塞术。

Objective： To study the clinical features of tuberous sclerosis accompanying large renal angiomyolipoma and treatment of hemorrhage due to spontaneous renal rupture. Methods： The clinical data about 3 female cases of tuberous sclerosis accompanying bilateral and multiple renal angiomyolipomas were reported. Their age ranged 16-26 years. All the cases had typical facial angiofibroma and mental retardation. Of them, 2 were admitted to hospital for severe abdominal distending pain and shock, 1 was admitted to hospital for abdominal distention and epilepsy. Cranticocerehral CT revealed typical calcified cortical tuber and/or subependymal nodules, but no etrarenal organ angioleiomyoma in the 3 cases. Results： One case underwent renal tumor emholization with DSA, 1 case underwent nephrectomy, 1 case received nephrectomy after anti-epilepsy treatment. The 3 cases recoverd well and were discharged home. Conclusion： Tuberous sclerosis accompanying severe renal angiomyolipoma, suspicious canceration and potential bleeding should be treated radically removed. Renal artery embolization is the first choice for bleeding due to renal rupture.