KMT2A基因新发突变导致Wiedemann-Steiner综合征合并矮身材1例

A Case of Wiedemann-Steiner Syndrome with Short Stature Caused by a Novel Mutation in KMT2A Gene

目的:探讨1例KMT2A基因新发突变导致的Wiedemann-Steiner综合征(WDSTS)合并矮身材患儿的临床特点和重组人生长激素(rhGH)治疗效果。方法:收集1例WDSTS患儿的临床资料,进行全外显子基因测序,应用rhGH治疗,并进行文献复习。结果:患儿女,6岁7个月,因“生长迟缓6年”就诊,身高109.0 cm (−2.01 SD),头围47.0 cm (G,患儿父母无此变异。给予rhGH治疗3月,身高增长3.0 cm,治疗过程中未出现不良反应。结论:WDSTS合并矮身材患儿短期应用rhGH治疗有效,远期需要监测其安全性。

Objective: To investigate the clinical characteristics and therapeutic effect of recombinant human growth hormone (rhGH) in a case of Wiedemann-Steiner syndrome (WDSTS) with short stature caused by a novel mutation of KMT2A gene. Methods: The clinical data of a child with WDSTS were collected, the whole exon gene was sequenced, rhGH was used, and the literature was reviewed. Results: The child aged 6 years and 7 months whose chief complaint was growth retardation for 6 years. Her height was 109.0 cm (−2.01 SD), and head circumference was 47.0 cm (G. There was no variation in this site in her parents. After rhGH treatment for 3 months, her height increased by 3.0 cm, and there was no adverse reaction during the treatment. Conclusion: Short-term rhGH therapy is effective in children with WDSTS and short stature, and long-term safety monitoring is needed.