【TRDN基因变异致Triadin敲除综合征1例】。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-08-02 DOI:10.3760/cma.j.cn112140-20221221-01060

Q Q Sun, F J Wang, H X Sun, Z H Xie

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[A case of Triadin knockout syndrome caused by TRDN gene variation].

患儿　女，2岁6月龄，因“呼吸、心搏骤停后5 h”转入郑州大学附属儿童医院，主要临床表现为心搏骤停、晕厥、无自主呼吸、抽搐。心电图可见单发、成对室性早搏以及多形性室性心动过速，予持续机械通气、抗感染、脑保护、美托洛尔等治疗，遗留有言语和语言障碍、肌无力。基因检测结果提示患儿TRDN基因存在c.326delT（p.Leu109CysfsTer25）纯合变异，确诊为Triadin敲除综合征，后继续予美托洛尔治疗，随访7个月未发生心脏事件。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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