Typical TSC findings were present in many patients: kidney cysts (72%), kidney fat-containing angiomyolipomas (51%), kidney lipid-poor angiomyolipomas (27%), liver angiomyolipomas (19%), and lung nodules thought to represent multifocal micronodular pneumocyte hyperplasia (MMPH) (18%). While many features were more common in TSC2 patients, TSC1 patients had a higher prevalence of MMPH than TSC2 patients (24% versus 13%, p = 0.05). Many rare findings (e.g., lymphatic malformations and liver masses) are more common in TSC than in the general population. Additionally, most thoracoabdominal imaging findings increased with age except kidney cysts which decreased, with the 0-10 years age group having the highest percentage (69% 0-10 years, 49% 10-21 years, 48% 21 + years, p < 0.001). Finally, in our population, no patients had renal cell carcinoma found on abdominal imaging.
These results show that regular thoracoabdominal scans in TSC may show several findings that should not be ignored or, conversely, over-reacted to when found in patients with TSC. Female sex, TSC2 mutation, and age are risk factors for many thoracoabdominal findings. The data suggest novel interactions of genetic mutation with pulmonary nodules and age with renal cysts. Finally, in agreement with other works, these findings indicate that several rare thoracoabdominal imaging findings occur at higher rates in the TSC population than in the general population. This work supports obtaining detailed thoracoabdominal imaging in patients with TSC.
许多患者出现典型的TSC发现:肾囊肿(72%),含肾脏脂肪的血管平滑肌脂肪瘤(51%),肾脏贫脂血管平滑肌脂肪瘤(27%),肝血管平滑肌脂肪瘤(19%),和肺结节被认为代表多灶性微结节性肺细胞增生(MMPH)(18%)。虽然许多特征在TSC2患者中更为常见,TSC1患者MMPH的患病率高于TSC2患者(24%对13%,p=0.05)。许多罕见的发现(例如,淋巴畸形和肝脏肿块)在TSC中比在普通人群中更常见。此外,除肾囊肿减少外,大多数胸腹造影结果随年龄增加而增加,0-10岁年龄组的比例最高(69%0-10岁,49%10-21年,48%21年以上,p<0.001)。最后,在我们的人口中,没有患者在腹部成像中发现肾细胞癌。
这些结果表明,在TSC中进行常规的胸腹扫描可能显示出一些不容忽视的发现,或者,相反,在TSC患者中发现时反应过度。女性性别,TSC2突变,和年龄是许多胸腹检查结果的危险因素。数据表明,基因突变与肺结节以及年龄与肾囊肿之间存在新的相互作用。最后,与其他作品一致,这些研究结果表明,在TSC人群中,几种罕见的胸腹联合影像学表现的发生率高于一般人群.这项工作支持在TSC患者中获得详细的胸腹成像。