结节性硬化症并双肾多发错构瘤的临床诊治

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。

Clinical Diagnosis Therapy of Tuberous Sclerosis Combined with Bilateral Multifocal Renal Angiomyolipomas

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 muhifocal 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 muhifocal 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.