结节性硬化症合并膀胱瘤变1例并文献复习

Tuberous Sclerosis with Bladder Neoplasia in One Case and the Literature Review

摘要: 目的：探讨结节性硬化症(Tuberous sclerosis complex, TSC)合并膀胱瘤变的临床特点。方法：回顾性分析1例结节性硬化症合并膀胱瘤变患儿的临床资料，并进行文献复习。结果：男性患儿，11岁，首发症状为尿频、尿痛、肉眼血尿，尿常规可见隐血、无白细胞，泌尿系彩超结果为膀胱壁增厚并多发结节，未行膀胱结节活检，口服雷帕霉素治疗，目前暂无血尿。结论：TSC表现形式多样，需警惕多脏器病变可能。

Abstract: Objective: To explore the clinical features of tuberous sclerosis with bladder neoplasia. Methods: A retrospective analysis of the clinical data of a child with tuberous sclerosis complex with cystic neo-plasia and literature review. Results: An 11-year-old male child with initial symptoms of frequent urination, dysuria, gross hematuria, occult blood and no leukocytes in routine urine, urinary blad-der wall thickening and multiple nodules on color Doppler ultrasound, no bladder nodule biopsy, oral rapa Mycophenolate treatment, there is no hematuria at present. Conclusion: There are differ-ent forms of tuberous sclerosis complex, may need to alert to multiple organ lesions.