Wang Jun, Zhang Jie, Yang Ying, Gao Kai, Wu Ye, Zhang Yuehua, Jiang Yuwu
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China.
Front Pediatr. 2022 Mar 17;10:842666. doi: 10.3389/fped.2022.842666. eCollection 2022.
The aim of this study was to evaluate the efficacy of the ketogenic diet (KD) for infantile spasms (IS) in patients with and without different causative genetic mutations.
We retrospectively evaluated the data of 119 infants with IS who underwent whole-exome sequencing (WES) before KD treatment. The KD efficacy was analyzed at the 16th week after initiation. Patients showing ≥ 50% seizure reduction from baseline and/or the disappeared hypsarrhythmia were considered as the responders. Chi-squared tests or two-sided Fisher's exact tests were performed for categorical data and Mann-Whitney -tests for non-parametric and continuous data.
The responder rate to KD in 119 patients was 47.90%. Six different causative monogenic mutations were identified in 32 (26.89%) patients with IS, including ( = 8), ( = 3), ( = 8), ( = 5), ( = 4), and ( = 4). Patients with mutations showed a significantly better response to KD (87.50%) than patients without mutations ( = 0.03). Seven of eight patients with mutations were responders, including five mutations located in functional motifs, and two mutations in the catalytic domain.
KD therapy was effective in infants with IS. Patients with mutations might have a better response to KD treatment.
本研究旨在评估生酮饮食（KD）对有无不同致病基因突变的婴儿痉挛症（IS）患者的疗效。
我们回顾性评估了119例在接受KD治疗前进行全外显子测序（WES）的IS婴儿的数据。在开始治疗后的第16周分析KD疗效。癫痫发作次数较基线减少≥50%和/或高峰失律消失的患者被视为反应者。对分类数据进行卡方检验或双侧Fisher精确检验，对非参数和连续数据进行Mann-Whitney检验。
119例患者对KD的反应率为47.90%。在32例（26.89%）IS患者中鉴定出6种不同的致病单基因突变，包括（=8）、（=3）、（=8）、（=5）、（=4）和（=4）。有突变的患者对KD的反应（87.50%）明显优于无突变的患者（=0.03）。8例有突变的患者中有7例是反应者，其中5个突变位于功能基序，2个突变位于催化结构域。
KD治疗对IS婴儿有效。有突变的患者可能对KD治疗反应更好。
