1例鲁宾斯坦-泰比综合征患儿的麻醉考虑

R. Kumari, Arshi Agrawal, Anshul Goyal
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引用次数: 0

摘要

Rubinstein−Taybi综合征(RTS)是一种罕见的遗传综合征,由cAMP反应元件结合蛋白基因或EP300基因突变或16号染色体短臂微缺失引起。RTS的诊断主要是通过外表来进行的。它可能与多器官系统的紊乱有关。由于各种因素,RTS的麻醉管理可能具有挑战性。在麻醉前对困难气道进行彻底的术前评估和仔细的准备是成功管理病例的必要条件。在这里,我们报告一个9岁的RTS儿童进行膀胱镜检查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Anesthetic considerations in a child with Rubinstein–Taybi syndrome
Rubinstein − Taybi Syndrome (RTS) is a rare genetic syndrome caused by a mutation in the cAMP response element binding protein gene or EP300 gene or as the result of microdeletion from short (p) arm of chromosome 16. The diagnosis of RTS is made primarily through physical appearance. It may be associated with the disorders of multiple organ systems. Anesthetic management might be challenging in RTS due to various factors. A thorough preoperative evaluation and careful preparation for difficult airways before anesthesia is mandatory for successful case management. Here, we report the case of a 9-year-old child with RTS posted for cystoscopy.
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