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

Autor: Muroga C; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan., Yokoyama H; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan. hirokiy1+med@gmail.com., Kinoshita R; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan., Fujimori D; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan., Yamada Y; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan., Okanishi T; Division of Child Neurology, Faculty of Medicine, Institute of Neurological Sciences, Tottori University, Yonago, Japan., Morisada N; Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan., Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Namba N; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago, Tottori, 683-8504, Japan.
Jazyk: angličtina
Zdroj: CEN case reports [CEN Case Rep] 2024 Oct; Vol. 13 (5), pp. 351-355. Date of Electronic Publication: 2024 Feb 27.
DOI: 10.1007/s13730-024-00854-6
Abstrakt: 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.
(© 2024. The Author(s), under exclusive licence to Japanese Society of Nephrology.)
Databáze: MEDLINE
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