{"title":"Everolimus on cystic kidney disease burden reduction in pediatric tuberous sclerosis complex patients: a case series.","authors":"Sumona Banerjee, Louis Richard Feldenberg","doi":"10.1186/s12882-024-03743-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Tuberous Sclerosis complex (TSC) is a multisystemic neurocutaneous genetic condition with high rates of morbidity and mortality from subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma, and renal cyst complications. Everolimus is an inhibitor for mTORC1 and is currently used to treat TSC for its main role in rapidly reducing SEGA volume and seizure burden, although mainly studied in the adult population. It has also been shown to stabilize estimated glomerular filtration rate and reduce renal angiomyolipoma size in the adult population.</p><p><strong>Case presentation: </strong>This case report illustrates three pediatric patients placed on everolimus for SEGA and seizure control with incidental findings of the disappearance of or decreased burden of cystic kidney disease after everolimus therapy. In one patient, the cyst burden remained stable even after the cessation of everolimus while the SEGA resumed growth.</p><p><strong>Conclusions: </strong>This report demonstrates the utility of everolimus in not only renal angiomyolipomas but also cystic kidney disease particularly in pediatric patients with a promising role in preserving renal function and preventing long term sequelae such as hematuria and hemorrhage from larger renal cysts especially if used early on in disease course.</p>","PeriodicalId":9089,"journal":{"name":"BMC Nephrology","volume":null,"pages":null},"PeriodicalIF":2.2000,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503930/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMC Nephrology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s12882-024-03743-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"UROLOGY & NEPHROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Tuberous Sclerosis complex (TSC) is a multisystemic neurocutaneous genetic condition with high rates of morbidity and mortality from subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma, and renal cyst complications. Everolimus is an inhibitor for mTORC1 and is currently used to treat TSC for its main role in rapidly reducing SEGA volume and seizure burden, although mainly studied in the adult population. It has also been shown to stabilize estimated glomerular filtration rate and reduce renal angiomyolipoma size in the adult population.
Case presentation: This case report illustrates three pediatric patients placed on everolimus for SEGA and seizure control with incidental findings of the disappearance of or decreased burden of cystic kidney disease after everolimus therapy. In one patient, the cyst burden remained stable even after the cessation of everolimus while the SEGA resumed growth.
Conclusions: This report demonstrates the utility of everolimus in not only renal angiomyolipomas but also cystic kidney disease particularly in pediatric patients with a promising role in preserving renal function and preventing long term sequelae such as hematuria and hemorrhage from larger renal cysts especially if used early on in disease course.
背景:结节性硬化症综合征(TSC)是一种多系统性神经皮肤遗传病,因脐带下巨细胞星形细胞瘤(SEGA)、肾血管脂肪瘤和肾囊肿并发症而发病率和死亡率很高。依维莫司(Everolimus)是一种mTORC1抑制剂,目前用于治疗TSC,其主要作用是迅速减少SEGA的体积和癫痫发作的负担,但主要研究对象是成年人。在成人群体中,该药还被证明可以稳定肾小球滤过率并缩小肾血管肌脂肪瘤的大小:本病例报告介绍了三例因 SEGA 和癫痫发作而接受依维莫司治疗的儿童患者,偶然发现依维莫司治疗后囊性肾脏疾病消失或负担减轻。其中一名患者的囊肿负担在停止使用依维莫司后仍保持稳定,而SEGA则恢复生长:本报告表明依维莫司不仅适用于肾血管肌脂肪瘤,还适用于囊性肾病,尤其是儿童患者,在保护肾功能和预防长期后遗症(如较大肾囊肿引起的血尿和出血)方面大有可为,尤其是在病程早期使用依维莫司。
期刊介绍:
BMC Nephrology is an open access journal publishing original peer-reviewed research articles in all aspects of the prevention, diagnosis and management of kidney and associated disorders, as well as related molecular genetics, pathophysiology, and epidemiology.