手术切除结节性硬化症相关肾巨大血管平滑肌脂肪瘤一例
R692; 结节性硬化症(TSC)是一种累及全身多器官、多系统的常染色体显性遗传病.TSC相关肾脏病变是成年TSC患者死亡的首要原因.本文回顾性分析1 例手术治疗TSC相关肾巨大血管平滑肌脂肪瘤(RAML)的病例特点.该患者为25 岁男性,2000 年因双颊部多发斑丘疹而诊断为TSC.2019 年 7 月患者复诊时,影像学检查发现左下腹肿瘤,最大横截面积16 cm×7 cm.基因检测提示TSC2 的EX18_41 存在杂合性缺失.明确诊断后,择期于北京协和医院行开腹左肾部分切除术,术中见左肾表面多发肿瘤,较大者位于左肾中极腹侧面,直径约 20 cm.阻断肾动脉后,完整剜除左肾肿瘤.术后病理回报...
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| Published in | 罕见病研究 Vol. 3; no. 1; pp. 118 - 123 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | Chinese |
| Published |
中国医学科学院北京协和医院 泌尿外科,北京 100730%中国医学科学院北京协和医院 病理科,北京 100730
2024
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2097-0501 |
| DOI | 10.12376/j.issn.2097-0501.2024.01.016 |
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| Abstract | R692; 结节性硬化症(TSC)是一种累及全身多器官、多系统的常染色体显性遗传病.TSC相关肾脏病变是成年TSC患者死亡的首要原因.本文回顾性分析1 例手术治疗TSC相关肾巨大血管平滑肌脂肪瘤(RAML)的病例特点.该患者为25 岁男性,2000 年因双颊部多发斑丘疹而诊断为TSC.2019 年 7 月患者复诊时,影像学检查发现左下腹肿瘤,最大横截面积16 cm×7 cm.基因检测提示TSC2 的EX18_41 存在杂合性缺失.明确诊断后,择期于北京协和医院行开腹左肾部分切除术,术中见左肾表面多发肿瘤,较大者位于左肾中极腹侧面,直径约 20 cm.阻断肾动脉后,完整剜除左肾肿瘤.术后病理回报为血管平滑肌脂肪瘤.本病例为TSC相关肾巨大血管平滑肌脂肪瘤的治疗提供参考. |
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| AbstractList | R692; 结节性硬化症(TSC)是一种累及全身多器官、多系统的常染色体显性遗传病.TSC相关肾脏病变是成年TSC患者死亡的首要原因.本文回顾性分析1 例手术治疗TSC相关肾巨大血管平滑肌脂肪瘤(RAML)的病例特点.该患者为25 岁男性,2000 年因双颊部多发斑丘疹而诊断为TSC.2019 年 7 月患者复诊时,影像学检查发现左下腹肿瘤,最大横截面积16 cm×7 cm.基因检测提示TSC2 的EX18_41 存在杂合性缺失.明确诊断后,择期于北京协和医院行开腹左肾部分切除术,术中见左肾表面多发肿瘤,较大者位于左肾中极腹侧面,直径约 20 cm.阻断肾动脉后,完整剜除左肾肿瘤.术后病理回报为血管平滑肌脂肪瘤.本病例为TSC相关肾巨大血管平滑肌脂肪瘤的治疗提供参考. |
| Abstract_FL | Tuberous sclerosis complex(TSC)is an autosomal dominant hereditary disease that affects multiple organs and systems throughout the body.TSC-associated kidney disease is the leading cause of death in adult TSC patients.This article retrospectively analyzed the characteristics of one TSC-related renal giant angiomy-olipoma(RAML)treated with surgery.The patient,25 years old,was diagnosed with tuberous sclerosis complex in 2000 due to multiple maculopapular rashes on both cheeks.At a regular follow-up in July 2019,imaging exam-inations revealed a tumor in the left lower quadrant with a maximum cross-sectional area of 16 cm×7 cm.Genetic testing showed a loss of heterozygosity in the EX18_41 of TSC2.After the diagnosis was confirmed,open left par-tial nephrectomy was performed,during which multiple tumors were found on the kidney surface and the largest one was located on the ventral side with a diameter of approximately 20 cm.After the renal artery was occluded,kidney tumors were completely enucleate.Postoperative pathological confirmed the diagnosis of angiomyolipoma.This case provides a reference for the treatment of TSC-related renal giant hamartoma. |
| Author | 王站 张玉石 肖雨 王文达 |
| AuthorAffiliation | 中国医学科学院北京协和医院 泌尿外科,北京 100730%中国医学科学院北京协和医院 病理科,北京 100730 |
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| Author_FL | WANG Wenda WANG Zhan ZHANG Yushi XIAO Yu |
| Author_FL_xml | – sequence: 1 fullname: WANG Zhan – sequence: 2 fullname: XIAO Yu – sequence: 3 fullname: WANG Wenda – sequence: 4 fullname: ZHANG Yushi |
| Author_xml | – sequence: 1 fullname: 王站 – sequence: 2 fullname: 肖雨 – sequence: 3 fullname: 王文达 – sequence: 4 fullname: 张玉石 |
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| DocumentTitle_FL | A Case Report of Surgical Resection of Tuberous Sclerosis Complex Related Renal Giant Angiomyolipoma |
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| Keywords | rare diseases renal angiomyolipoma 肾部分切除术 tuberous sclerosis complex 罕见病 肾血管平滑肌脂肪瘤 结节性硬化症 partial nephrectomy |
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| Snippet | R692; 结节性硬化症(TSC)是一种累及全身多器官、多系统的常染色体显性遗传病.TSC相关肾脏病变是成年TSC患者死亡的首要原因.本文回顾性分析1 例手术治疗TSC相关肾巨大血管平... |
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| Title | 手术切除结节性硬化症相关肾巨大血管平滑肌脂肪瘤一例 |
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