结节性硬化症并发肾血管平滑肌脂肪瘤:病例系列和文献回顾。

Mansour Mbengue, Bede Bigirimana, Seynabou Diagne, Abdou Niang
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引用次数: 0

摘要

结节性硬化症(TSC)是一种遗传性疾病,其特征是在身体的许多部位(主要是皮肤、大脑、肾脏)生长许多非癌性肿瘤。据估计,该疾病的患病率为10万分之7至12。我们报告了两例黑人非洲妇女在25岁和54岁诊断为TSC。患者均有肾血管平滑肌脂肪瘤、面部血管纤维瘤及弥漫性低色斑。老年患者在诊断后的11年里病情保持稳定。但是,在第二位患者中,病情更为严重,出现了巨大的血管平滑肌脂肪瘤,并发肾囊内出血,导致患者在诊断后1个月死亡。肾受累可危及TSC患者的生命。致命出血的风险随着肿瘤的大小而增加。mTOR抑制剂和血管栓塞治疗可改善该病的预后。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review.

Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review.

Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review.

Renal angiomyolipoma in tuberous sclerosis complex: Case series and literature review.

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of numerous noncancerous tumors in many parts of the body mainly the skin, brain, kidneys. The prevalence of the disease is estimated to be 7 - 12 in 100,000. We report the cases of two black African women diagnosed with TSC at age 25 and 54. They both had renal angiomyolipoma, facial angiofibroma and diffuse hypochromic macules. The older patient remained stable for the 11 years following her diagnosis. But, in the second patient, the disease was more severe with a giant angiomyolipoma, complicated by renal intracystic hemorrhage leading to the patient's death 1 month after diagnosis. Renal involvement can be life-threatening in patients with TSC. The risk of fatal bleeding increases with the size of the tumor. The mTOR inhibitors and angioembolization can improve the prognosis of this disease.

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