PIK3CA相关过度生长谱系患者对西罗莫司的快速反应
Rapid Response to Sirolimus in Patients with PIK3CA-Related Overgrowth Spectrum.
作者信息
Nye Jessica R, Green Jackson C, Talanker Michael, Barrera Jose, Richardson Kate, Menon Neethu M, Hebert Adelaide A, Greives Matthew R, Atkinson Autumn A
机构信息
McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas.
Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, Texas.
出版信息
Eplasty. 2024 Dec 13;24:e66. eCollection 2024.
-related overgrowth spectrum (PROS) is an umbrella term used to unify a heterogenous group of vascular overgrowth disorders by a shared genetic cause. Given that patients with PROS have a known, or likely, gene mutation in the PI3K/AKT/mTOR cascade, we hypothesize they experience a rapid response to inhibitors of this pathway, including sirolimus. In the following case series, we describe 3 patients with PROS and their response to sirolimus therapy. Despite their unique clinical presentations, insight into the genetic origin of their vascular overgrowth allowed for their successful treatment with the same medication.
相关过度生长谱系（PROS）是一个统称，用于通过共同的遗传原因将一组异质性血管过度生长疾病统一起来。鉴于PROS患者在PI3K/AKT/mTOR级联反应中有已知的或可能的基因突变，我们推测他们对该途径的抑制剂，包括西罗莫司，会有快速反应。在以下病例系列中，我们描述了3例PROS患者及其对西罗莫司治疗的反应。尽管他们有独特的临床表现，但对其血管过度生长的遗传起源的深入了解使他们能够用同一种药物成功治疗。
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