CAJ | 학술논문

目的：探讨结节性硬化症并双肾多发错构瘤的临床特征及诊治方法。方法：报告1例结节性硬化症并双肾多发错构瘤患者的临床资料，并检索国内外相关文献复习。结果：本例诊断证据确凿，采用错构瘤剜除术方式得当，手术过程顺利，术后效果确切。结论：结节性硬化症并双肾多发错构瘤是一种常染色体显性遗传病，典型表现为面部皮肤血管纤维瘤、躯干皮肤色素脱失斑、脑部室管膜下结节、视网膜错构瘤等合并双肾多发错构瘤。治疗可选择肾切除、肾部分切除、肿瘤剜除或动脉栓塞。
목적：탐토결절성경화증병쌍신다발착구류적림상특정급진치방법。방법：보고1례결절성경화증병쌍신다발착구류환자적림상자료，병검색국내외상관문헌복습。결과：본례진단증거학착，채용착구류완제술방식득당，수술과정순리，술후효과학절。결론：결절성경화증병쌍신다발착구류시일충상염색체현성유전병，전형표현위면부피부혈관섬유류、구간피부색소탈실반、뇌부실관막하결절、시망막착구류등합병쌍신다발착구류。치료가선택신절제、신부분절제、종류완제혹동맥전새。
Objective: To investigate the clinical therapy of tuberous sclerosis combined with bilateral multifocal renal angiomyolipomas. Methods: Clinical document of one case of tuberous sclerosis combined with bilateral multifocal renal angiomyolipomas, as well as related literatures were reviewed to explore the clinical therapy to the disease. Results:The case reported was clearly diagnosed and properly conducted surgical excision, the surgery went was smooth, the effect of postoperative was satisfied. Conclusion: Tuberous sclerosis combined with bilateral multifocal renal angiomyolipomas is an autosomal dominant genetic disease with typical symptoms of facial angiofibroma, torso skin depigmentation of the skin spots, ependymal nodules under the brain, retinal hamartoma combined with bilateral renal angiomyolipoma. Nephrectomy, partial nephrectomy, excision of tumor and arterial embolism became the normal therapeutic methods.