家族遗传性结节硬化症合并成人肾母细胞瘤  

Familial genetic tuberous sclerosis complex associated with Wilms' tumor in adult

作　　者：徐峰[1] 李晓欣[2] 孙文学[1] 叶雄俊[3] 熊六林[3] 田燕[2] 

机构地区：[1]北京市昌平区医院泌尿外科,102200 [2]空军总医院皮肤病医院 [3]北京大学人民医院泌尿外科

出　　处：《中华临床医师杂志（电子版）》2014年第10期38-40,共3页Chinese Journal of Clinicians(Electronic Edition)

摘　　要：目的报道首例家族遗传性结节硬化症合并成人肾母细胞瘤病例,探讨其发病机制,寻求有效的治疗方法。方法回顾性分析该患者的遗传特性、发病特点,并探讨其发病机理及可能的治疗方法。结果患者家族中连续5代出现结节硬化症,均以皮肤表现为主。患者面部皮肤表现为面部血管纤维瘤,四肢肢端表现为甲周纤维瘤,同时影像学发现右肾占位伴区域淋巴结转移,病理提示为肾母细胞瘤,考虑为家族遗传性结节硬化症合并成人肾母细胞瘤,予放线菌素D、长春地辛、吡柔比星三联药物化疗,取得初步疗效。结论目前国内外无家族遗传性结节硬化症合并成人肾母细胞瘤的报道,该病发病原因不明,可供选择的治疗方式有限。Objective To report the first familial genetic tuberous sclerosis complex（TSC） associated with Wilms＆#39; tumor in adult, and inquire into its pathogenesis and look for an effective treatment. Methods A retrospective analysis was used in the clinical data of the patient to analyze its genetic characteristics, clinical feature, pathogenesis and discuss the possible treatment. Results The skin manifestation of TSC was appeared in her familiy for five generations, the facial angiofibroma was wide spread in her face from birth and Konen tumor appeared in her acra since 20 years old, an occupying lesion in her right kidney with regional lymph node metastasis was detected by imaging examination, pathological examination hinted as a Wilms＆#39; tumor, we conform the disease as a familial genetic TSC associated with Wilms＆#39; tumor. A trimodality therapy of actinomycin D, vindesine and pirarubicin was prescribed for the patient, her right kidney occupying shrunk after a month and a half. Conclusion There is no article to report about the familial genetic TSC associated with Wilms＆#39; tumor in adult so far, and its pathogenesis is unclear, so the treatment we can choose is limited.

关 键 词：结节性硬化症 WILMS瘤 

分 类 号：R737.11[医药卫生—肿瘤]