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Updated: Jan 30, 2026
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结核性硬化综合体中的双重病理:双边血管脂瘤和并发的左细胞癌
Jaideep Singh Soni1, Shiv Charan Navriya2, Gautam Ram Choudhary3
1Urology, AIIMS Jodhpur, Jodhpur, India.
BMJ case reports
|January 28, 2026
概括
这种病例突出显示了结核性硬化综合体 (TSC) 与复杂的脏瘤,包括血管髓脂瘤 (AML) 和细胞癌,在一个有逆位的患者身上. 治疗包括栓塞,脏节约手术和向治疗.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學專業.
- 在瘤学瘤学.
- 遗传学 遗传学是一种遗传学.
背景情况:
- 结核性硬化综合体 (TSC) 是一种遗传性疾病,与包括脏在内的各种器官中的良性瘤,主要是血管髓脂瘤 (AML) 相关.
- 在TSC中脏表现可能是复杂的,涉及多个瘤,出血和潜在的恶性转变.
- 像 situs inversus totalis 这样的解剖学变异可以进一步复杂化诊断和管理.
研究的目的:
- 报告一个复杂的TSC病例,同时存在动脉髓瘤和高度细胞癌.
- 为了说明病理在患有 situs inversus totalis 的患者中所带来的诊断和治疗挑战.
- 强调在TSC患者中量身定制的节管理策略的重要性.
主要方法:
- 诊断工作包括成像 (CT/MRI) 来表征质并评估TSC痕.
- 干预性放射学程序:通过动脉栓塞 (TAE) 来治疗来自血管瘤的活跃出血.
- 手术干预:为恶性质而进行开放部分切除术.
- 药物治疗:Everolimus开始用于残留的AML和淋巴细胞瘤瘤 (LAM).
主要成果:
- 患者呈现双侧侧痛和出血症,诊断出TSC,巨型出血脏AML,以及双重病理 (AML和高度RCC) 的右质.
- 确定了Situs inversus totalis,增加了解剖学景观的复杂性.
- 通过TAE成功控制出血,随后对恶性瘤进行节脏部分切除术.
- 组织病理学证实在右脏中存在AML和高度细胞癌.
- 用Everolimus治疗残留疾病的出院后管理,导致稳定的功能和在6个月内解决的血.
结论:
- 在TSC中复杂的病理,包括共存的良性和恶性瘤,需要多学科的方法.
- 子节约策略对于在TSC患者中保持功能至关重要.
- 全面的成像和组织病理学确认对于准确的诊断和治疗计划至关重要.
- 与TSC相关的脏疾病的管理可能需要干预性放射学,手术和向性医疗疗的结合,即使存在解剖异常.
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