新生儿Zhu-Tokita-Takenouchi-Kim综合征1例报告  

Zhu-Tokita-Takenouchi-Kim syndrome in a neonate

作　　者：刘伟娜[1] 皮亚雷[2] 白星宇 陈惠芬[1] LIU Wei-Na;PI Ya-Lei;BAI Xing-Yu;CHEN Hui-Fen(Department of Neonatology,Fourth Hospital of Shijiazhuang,Shijiazhuang 050000,China)

机构地区：[1]石家庄市第四医院新生儿科,河北石家庄050000 [2]河北医科大学第二医院儿科,河北石家庄050000

出　　处：《中国当代儿科杂志》2025年第3期373-376,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：患儿,男,足月儿,生后16 min,因生后喉鸣、吸气性呼吸困难16 min入院,体格检查可见腭裂,胸骨左缘可闻及Ⅱ级收缩期吹风样杂音。全外显子组检测发现患儿SON基因存在c.5753-5756del(p.Val1918GlufsTer87)杂合变异,父母均未携带该变异,为新发变异,根据美国医学遗传学与基因组学学会指南,综合评级为“致病性变异”,该患儿最终诊断为Zhu-Tokita-Takenouchi-Kim(ZTTK)综合征。入院后给予对症支持治疗,随访至生后8个月,仍喉鸣明显,可少量吃奶,独坐不稳。该患儿是目前报道年龄最小者,其症状拓展了临床疾病谱,可为临床诊疗提供思路。The patient is a male neonate born at term.He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress.Physical examination revealed a cleft palate,and a grade II systolic ejection murmur was audible at the left sternal border.Whole exome sequencing identified a heterozygous variant in the SON gene,c.5753-5756del(p.Val1918GlufsTer87),which was absent in either parent,indicating a de novo mutation.According to the guidelines of the American College of Medical Genetics and Genomics,this was classified as a"pathogenic variant"leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim(ZTTK)syndrome.Upon admission,symptomatic supportive treatment was provided.Follow-up at the age of 8 months revealed persistent stridor;the infant could only consume small amounts of milk and was unable to sit steadily.This patient represents the youngest reported case to date,and his symptoms expand the clinical spectrum of the disease,providing valuable insights for clinical diagnosis and treatment.

关 键 词：Zhu-Tokita-Takenouchi-Kim综合征 SON基因 基因变异 新生儿 

分 类 号：R722.1[医药卫生—儿科]