A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts.

IF 1 Q4 UROLOGY & NEPHROLOGY
CEN Case Reports Pub Date : 2024-10-01 Epub Date: 2024-02-27 DOI:10.1007/s13730-024-00854-6
Chika Muroga, Hiroki Yokoyama, Ryo Kinoshita, Daisuke Fujimori, Yuko Yamada, Tohru Okanishi, Naoya Morisada, Kandai Nozu, Noriyuki Namba
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引用次数: 0

Abstract

Tolvaptan, a vasopressin receptor antagonist, has been shown to be effective in the treatment of renal cysts in ADPKD. However, tolvaptan is not indicated for pediatric patients, and reports of its use are rare, making its efficacy and adverse reactions unclear. Herein, we present the case of an 11-year-old girl who had vitiligo from birth. She was diagnosed with West syndrome at 6 months of age and tuberous sclerosis at 2 years of age. At the age of 6 years, an abdominal magnetic resonance imaging (MRI) revealed multiple bilateral renal cysts, and she was diagnosed with ADPKD. Abdominal MRI scans performed at 10 years and 11 years showed rapid renal cyst enlargement, and the renal prognosis was judged to be poor. The patient was treated with tolvaptan to delay cyst exacerbation. There were no apparent adverse events after the initiation of treatment, and the MRI performed 12 months after treatment initiation showed that renal cyst enlargement was suppressed. The results suggest that tolvaptan may be effective in pediatric patients with severe ADPKD who have rapidly enlarging renal cysts, although evaluation of renal cyst enlargement and side effects should be continued.

一名患有TSC2/PKD1连续基因缺失综合征的儿童因快速增大的肾囊肿而接受托伐普坦治疗,并获得成功。
托伐普坦是一种血管加压素受体拮抗剂,已被证明可有效治疗ADPKD患者的肾囊肿。然而,托伐普坦并不适用于儿童患者,而且有关其使用的报道也非常罕见,因此其疗效和不良反应尚不明确。在此,我们介绍一例从出生就患有白癜风的 11 岁女孩的病例。她在 6 个月大时被诊断出患有韦斯特综合征,2 岁时被诊断出患有结节性硬化症。6 岁时,腹部磁共振成像(MRI)发现双侧多发性肾囊肿,她被诊断为 ADPKD。10岁和11岁时进行的腹部核磁共振成像扫描显示肾囊肿迅速增大,判断肾脏预后不良。患者接受了托伐普坦治疗,以延缓囊肿恶化。治疗开始后没有出现明显的不良反应,治疗开始 12 个月后进行的核磁共振成像显示肾囊肿增大得到抑制。研究结果表明,托伐普坦对肾囊肿迅速增大的重度ADPKD儿科患者可能有效,但应继续评估肾囊肿增大情况和副作用。
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来源期刊
CEN Case Reports
CEN Case Reports UROLOGY & NEPHROLOGY-
CiteScore
1.90
自引率
0.00%
发文量
80
期刊介绍: Clinical and Experimental Nephrology (CEN) Case Reports is a peer-reviewed online-only journal, officially published biannually by the Japanese Society of Nephrology (JSN).  The journal publishes original case reports in nephrology and related areas.  The purpose of CEN Case Reports is to provide clinicians and researchers with a forum in which to disseminate their personal experience to a wide readership and to review interesting cases encountered by colleagues all over the world, from whom contributions are welcomed.
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