婴儿歌舞伎综合征2例报道并文献复习

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摘要目的通过报道2例婴儿歌舞伎综合征(KS)并文献检索,总结婴儿期诊断KS患儿临床特点,提高临床医生对该病认识,早期识别、诊断、进行综合管理。方法汇报2例通过基因检测确诊KS-1型患儿病史及诊治经过,检索相关文献,对2010年8月—2021年3月报道的、明确分子病因、婴儿期诊断的国内病例进行归纳和总结。结果病例1,新生儿期主要特点为低血糖、喂养困难,携带KMT2D基因c.1583delC变异(p.Pro528HisfsTer402)。病例2,面容异常、后鼻孔闭锁、声门下狭窄,生后呼吸困难,携带KMT2D基因c.10775T>C变异(p.Met3592Arg)。共检索出14篇符合条件的文献,结合本文报道的2例患儿,共收集29例患儿信息。27例存在特殊面容,喂养困难17例,新生儿低血糖10例,肌张力低8例。25例是KMT2D基因突变,其中1例为染色体易位,4例KDM6A基因突变。结论 KS典型的临床表型在婴儿期不典型,易漏诊。存在面容异常,合并畸形时需高度警惕KS,而出现喂养困难、低血糖、发育迟缓等不典型症状时,也要考虑KS行相关基因检测,实现早诊断、早干预。

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关键词 ：歌舞伎综合征(KS), 新生儿低血糖, 喂养困难, KMT2D基因, KDM6A基因

收稿日期: 2022-01-11

ZTFLH:

R72

通讯作者: 卢伟能(nornern.lu@126.com)

引用本文:

张坤, 卢伟能. 婴儿歌舞伎综合征2例报道并文献复习[J]. 中国生育健康杂志, 2023, 34(2): 184-187.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2023/V34/I2/184

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