Mbengue Mansour, Bigirimana Bede, Diagne Seynabou, Niang Abdou
Department of Nephrology, Cheikh Anta Diop University, Dakar, Senegal.
Clin Nephrol Case Stud. 2023 Mar 5;11:29-34. doi: 10.5414/CNCS110768. eCollection 2023.
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.
结节性硬化症(TSC)是一种遗传性疾病,其特征是在身体许多部位(主要是皮肤、大脑、肾脏)生长大量非癌性肿瘤。据估计,该疾病的患病率为每10万人中有7至12人。我们报告了两名年龄分别为25岁和54岁的非洲黑人女性被诊断为TSC的病例。她们都患有肾血管平滑肌脂肪瘤、面部血管纤维瘤和弥漫性色素减退斑。年长的患者在确诊后的11年里病情保持稳定。但是,在第二名患者中,病情更为严重,患有巨大的肾血管平滑肌脂肪瘤,并伴有肾内囊出血,导致患者在确诊后1个月死亡。肾脏受累在TSC患者中可能危及生命。致命出血的风险随着肿瘤大小的增加而增加。mTOR抑制剂和血管栓塞可以改善这种疾病的预后。