Inaba Yasuhiro, Miyazono Akinori, Mitsunobu Takuro, Seki Yuko, Nozu Kandai, Nagano China, Okamoto Yasuhiro
Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
CEN Case Rep. 2025 Aug 5. doi: 10.1007/s13730-025-01018-w.
In pediatric steroid-resistant nephrotic syndrome (SRNS), causative genetic abnormalities are now being identified. Immunosuppressive therapy is generally believed to be ineffective in treating Frasier syndrome, which is associated with genetic abnormalities. Recently, the efficacy of cyclosporine A (CyA) via a non-immunological mechanism has been reported. However, all of these reports have shown partial remission. In the present study, we report a case of nephrotic syndrome in a 1-year-old patient who was treated with CyA for SRNS. Complete remission was confirmed for 6 months, and the patient is currently in partial remission. Following confirmation of complete remission, hereditary nephrotic syndrome was not actively investigated; however, delayed secondary sexual characteristics' development led to the diagnosis of Frasier syndrome at the age of 13 years. Thus, immunosuppressive agents may have some efficacy in treating Frasier syndrome, particularly given that our patient achieved complete remission, indicating that it is worth considering administration of immunosuppressive agents for Frasier syndrome management.
在儿童激素抵抗型肾病综合征（SRNS）中，目前正在确定致病基因异常。免疫抑制疗法通常被认为对治疗与基因异常相关的弗雷泽综合征无效。最近，有报道称环孢素A（CyA）通过非免疫机制具有疗效。然而，所有这些报道均显示为部分缓解。在本研究中，我们报告了1例1岁的SRNS患者接受CyA治疗肾病综合征的病例。已确认完全缓解6个月，该患者目前处于部分缓解状态。在确认完全缓解后，未积极调查遗传性肾病综合征；然而，继发性特征发育延迟导致在13岁时诊断为弗雷泽综合征。因此，免疫抑制剂在治疗弗雷泽综合征方面可能具有一定疗效，特别是鉴于我们的患者实现了完全缓解，这表明值得考虑使用免疫抑制剂来管理弗雷泽综合征。
