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顾良友, 李怀康, 宣云东, 巫胜攀, 赵旭鹏, 郭刚, 张旭. 结节性硬化症伴肾血管平滑肌脂肪瘤患者临床特征的性别差异及雌激素在疾病进展中的作用研究[J]. 解放军医学院学报, 2023, 44(10): 1063-1067. DOI: 10.12435/j.issn.2095-5227.2023.091
引用本文: 顾良友, 李怀康, 宣云东, 巫胜攀, 赵旭鹏, 郭刚, 张旭. 结节性硬化症伴肾血管平滑肌脂肪瘤患者临床特征的性别差异及雌激素在疾病进展中的作用研究[J]. 解放军医学院学报, 2023, 44(10): 1063-1067. DOI: 10.12435/j.issn.2095-5227.2023.091
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GU Liangyou, LI Huaikang, XUAN Yundong, WU Shengpan, ZHAO Xupeng, GUO Gang, ZHANG Xu. Clinical features of RAML in male and female tuberous sclerosis complex patients and role of estrogen in disease progression[J]. ACADEMIC JOURNAL OF CHINESE PLA MEDICAL SCHOOL, 2023, 44(10): 1063-1067. DOI: 10.12435/j.issn.2095-5227.2023.091
Citation: GU Liangyou, LI Huaikang, XUAN Yundong, WU Shengpan, ZHAO Xupeng, GUO Gang, ZHANG Xu. Clinical features of RAML in male and female tuberous sclerosis complex patients and role of estrogen in disease progression[J]. ACADEMIC JOURNAL OF CHINESE PLA MEDICAL SCHOOL, 2023, 44(10): 1063-1067. DOI: 10.12435/j.issn.2095-5227.2023.091
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结节性硬化症伴肾血管平滑肌脂肪瘤患者临床特征的性别差异及雌激素在疾病进展中的作用研究

Clinical features of RAML in male and female tuberous sclerosis complex patients and role of estrogen in disease progression

    摘要
  • 摘要:
    背景 结节性硬化症(tuberous sclerosis complex，TSC)患者中女性占比高、疾病程度重、进展快，具体机制不明。
    目的 比较男女TSC患者的临床特点，检测雌激素受体α(estrogen receptor alpha，ERα)在TSC患者肾病变组织中的表达水平，探索雌激素对TSC2-/- 小鼠胚胎成纤维细胞(mouse embryonic fibroblasts，MEF)增殖能力的影响。
    方法 本研究分两部分，临床研究部分收集2015年1月 - 2020年12月在解放军总医院第三医学中心泌尿外科医学部接受治疗的结节性硬化症患者资料，比较男女患者临床特征差异，免疫组织化学检测TSC患者肾血管平滑肌脂肪瘤(renal angiomyolipoma，RAML)组织中ERα的表达水平；细胞学研究部分采用MTS实验检测雌二醇和雌激素受体拮抗剂氟维司群对TSC2-/- MEF细胞增殖能力的影响。
    结果 本中心共诊治145例伴发RAML的TSC患者，中位年龄29(IQR：24 ~ 36)岁，女性(77.2%)显著多于男性(22.8%)。与男性患者比较，女性患者病灶＞3 cm的比例更高(47.3% vs 27.3%，P=0.041)，差异有统计学意义；女性患者进展中病灶(22.3% vs 12.1%)、RAML引起相关疼痛(10.7% vs 6.1%)、肾功能受损(5.4% vs 3.0%)和破裂出血(8.9% vs 3.0%)比例更高，但差异无统计学意义(P＞0.05)。本组患者中6例患者进行了免疫组化检测，其中4例(均为女性) RAML组织中阳性表达ERα。MTS实验发现雌二醇能够促进TSC2-/- MEF细胞的增殖能力，而氟维司群能够抑制细胞的增殖能力。
    结论 女性TSC患者RAML体积更大，症状更重。ERα在部分TSC患者RAML组织中高表达，且雌激素能促进TSC2-/- MEF细胞增殖，ERα可能在TSC疾病进展中发挥重要作用。

     

    Abstract:
    Background Tuberous sclerosis complex (TSC) accounts for a high proportion in female patients, and characterized with serious disease and rapid progression, but its specific mechanism is unknown.
    Objective To compare the clinical characteristics of male and female TSC patients, examine the expression of estrogen receptor α (ERα) in renal lesions of TSC patients, and explore the effect of estrogen on the proliferation of TSC2-/- MEF cells.
    Methods Clinical data about patients with tuberous sclerosis complex treated in the Urology Department of Chinese PLA General Hospital from January 2015 to December 2020 were collected, and the clinical characteristics of male and female patients were analyzed and compared; Immunohistochemistry was used to detect the expression of ERα in renal angiomyolipoma (RAML) of the TSC patients. In cytological study, MTS assay was used to detect the effects of estradiol and estrogen receptor antagonist fluvastatin on proliferation of TSC2-/- MEF cells.
    Results A total of 145 TSC patients with RAML were diagnosed and treated in our center, with a median age of 29 (IQR: 24-36) years, and the number of female patients (77.2%) was significantly more than male patients (22.8%). Female patients with lesions larger than 3cm showed a higher proportion (47.3% vs 27.3%, P=0.041), and they also had higher proportions of progressive lesions (22.3% vs 12.1%), associated pain causing by RAML (10.7% vs 6.1%), impaired renal function (5.4% vs 3.0%), and ruptured bleeding (8.9% vs 3.0%), but the differences were not significant. Six patients underwent immunohistochemistry testing, and 4 of them (all female) showed positive expression of ERα in the RAML tissue. MTS assay showed estradiol significantly promoted the proliferation of TSC2-/- MEF cells, while fluvastatin significantly inhibited the proliferation of TSC2-/- MEF cells (P＜0.05).
    Conclusion Female TSC patients have larger RAML size and more severe symptoms. ERα is highly expressed in RAML tissues of some TSC patients and estrogen can promote the proliferation of TSC2-/- MEF cells, ERα may play an important role in the progression of TSC disease.

     

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