Abstract：
Autosomal dominant polycystic kidney disease (ADPKD) may coexist with other genetic disorders, such as tuberous sclerosis, when deletion in TSC2/PKD1 genes occurs. Recently, the effect of tolvaptan has been explored in ADPKD patients alone, but its safety and efficacy on TSC2/PKD1 contiguous gene syndrome are unknown.
This report describes the case of an asymptomatic patient with TSC2/PKD1 contiguous gene syndrome that fulfills the imaging criteria for initiating the treatment with tolvaptan. After twelve months, the patient did not exhibit severe adverse effects and blood pressure control improved.
In this TSC2/PKD1 contiguous gene syndrome single case report, tolvaptan was safe and well-tolerated. More extensive experimental studies are needed to deeply understand the therapeutic implications of vasopressin V2-receptor inhibition in the TSC2/PKD1 contiguous gene syndrome patients.
This report describes the case of an asymptomatic patient with TSC2/PKD1 contiguous gene syndrome that fulfills the imaging criteria for initiating the treatment with tolvaptan. After twelve months, the patient did not exhibit severe adverse effects and blood pressure control improved.
In this TSC2/PKD1 contiguous gene syndrome single case report, tolvaptan was safe and well-tolerated. More extensive experimental studies are needed to deeply understand the therapeutic implications of vasopressin V2-receptor inhibition in the TSC2/PKD1 contiguous gene syndrome patients.
摘要：
背景：常染色体显性遗传性多囊肾病（ADPKD）可能与其他遗传性疾病共存，比如结节性硬化症，当TSC2/PKD1基因发生缺失时。最近,托伐普坦在ADPKD患者中的作用已被探索，但其对TSC2/PKD1邻接基因综合征的安全性和有效性尚不清楚。
方法：本报告描述了一例TSC2/PKD1连续基因综合征的无症状患者，该患者符合开始托伐普坦治疗的影像学标准。十二个月后,患者未出现严重不良反应,血压控制得到改善.
结论：在这篇TSC2/PKD1连续基因综合征单例报告中，托伐普坦安全且耐受性良好.需要更广泛的实验研究来深入了解TSC2/PKD1连续基因综合征患者中血管加压素V2受体抑制的治疗意义。
方法：本报告描述了一例TSC2/PKD1连续基因综合征的无症状患者，该患者符合开始托伐普坦治疗的影像学标准。十二个月后,患者未出现严重不良反应,血压控制得到改善.
结论：在这篇TSC2/PKD1连续基因综合征单例报告中，托伐普坦安全且耐受性良好.需要更广泛的实验研究来深入了解TSC2/PKD1连续基因综合征患者中血管加压素V2受体抑制的治疗意义。
