A Case Report of Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease in the Era of Tolvaptan.

Xavier E Guerra-Torres
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引用次数: 1

Abstract

Background: 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.

Case presentation: 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.

Conclusion: 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.

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托伐普坦时代结节性硬化症和常染色体显性多囊肾病1例报告。
背景:当TSC2/PKD1基因缺失时,常染色体显性多囊肾病(ADPKD)可能与其他遗传性疾病共存,如结节性硬化症。近年来,托伐普坦对ADPKD患者的影响已被单独探讨,但其对TSC2/PKD1连续基因综合征的安全性和有效性尚不清楚。病例介绍:本报告描述了一例无症状的TSC2/PKD1连续基因综合征患者,符合开始使用托伐普坦治疗的影像学标准。12个月后,患者未出现严重的不良反应,血压控制得到改善。结论:在本例TSC2/PKD1连续基因综合征病例报告中,托伐普坦是安全且耐受性良好的。为了深入了解抗利尿激素v2受体抑制对TSC2/PKD1连续基因综合征患者的治疗意义,还需要更广泛的实验研究。
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CiteScore
4.80
自引率
9.10%
发文量
55
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