Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
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DOI：
10.1038/sj.ki.5001853
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发表时间：
2006-11-01
影响因子：
19.6
通讯作者：
Thiele, E. A.
中科院分区：
文献类型：
--
作者：
Rakowski, S. K.;Winterkorn, E. B.;Thiele, E. A.
多发性硬化症是一种遗传性疾病，其特征是多器官的错构瘤性病变，常累及肾脏。我们对167例结节性硬化症患者的临床和影像学记录进行了回顾性分析，以确定肾脏疾病的频率、显著肾脏发病率的可能性以及基因型（TSC 1 vs TSC 2）和性别对肾脏表型的影响。在57.5%的患者中观察到肾脏病变。其中，血管平滑肌脂肪瘤（AML）发生率为85.4%，囊肿发生率为44.8%，肾细胞癌发生率为4.2%。AML和囊肿在TSC 2中比在TSC 1中显著更常见和更多。AML患者中女性明显多于男性，但囊肿与性别无关。11例患者在本实践中的护理期间发生肾脏异常，平均发病年龄为11.3岁（范围3.8-23岁）。肾脏病变的频率和数量与年龄呈正相关。在11例（6.6%）患者中进行了干预，包括动脉栓塞和肾切除术。在女性淋巴管平滑肌瘤病患者中，肾脏AML是普遍存在的。我们的研究结果证实了肾脏受累率高，严重并发症发生率低，肾脏受累、基因型和性别之间存在显著相关性，女性患者肾脏和肺部受累之间存在显著相关性。
Tuberous sclerosis complex is a genetic disorder characterized by hamartomatous lesions in multiple organs, frequently involving the kidney. We conducted a retrospective review of the clinical and radiographic records of 167 patients with tuberous sclerosis to determine the frequency of renal disease, the likelihood of significant renal morbidity, and the effects of genotype (TSC1 vs TSC2) and gender on renal phenotype. Renal lesions were seen in 57.5% of patients. Of these, angiomyolipoma (AML) occurred in 85.4%, cysts in 44.8%, and renal cell carcinoma in 4.2%. Both AML and cysts were significantly more common and more numerous in TSC2 than in TSC1. AML was significantly more common in female than in male patients, but cysts showed no correlation with gender. Eleven patients developed renal abnormalities during their care in this practice at an average age of onset of 11.3 years (range 3.8-23 years). The frequency and number of renal lesions were positively correlated with age. Interventions, including arterial embolization and nephrectomy, were performed in 11 (6.6%) patients. Among female patients with lymphangioleiomyomatosis, renal AML was universally present. Our findings confirm a high rate of renal involvement; a low rate of serious complications; significant associations between renal involvement, genotype, and gender; and a significant association between renal and pulmonary involvement in female patients.