山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (6): 76-81.doi: 10.6040/j.issn.1671-7554.0.2023.1067
• 临床医学 • 上一篇
王梦琴1,2,张耀东2,陈佳佳3,张子夏1,胡家倩1,王曦1,赵艺璇1,张英娴1,卫海燕1,陈永兴1
WANG Mengqin1,2, ZHANG Yaodong2, CHEN Jiajia3, ZHANG Zixia1, HU Jiaqian1, WANG Xi1, ZHAO Yixuan1, ZHANG Yingxian1, WEI Haiyan1, CHEN Yongxing1
摘要: 目的 探讨3例Wiedemann-Steiner综合征(Wiedemann-Steiner syndrome, WSS)患儿的临床特征及遗传学病因,提高对该病的认识。 方法 回顾性分析2016年8月至2022年7月郑州大学附属儿童医院内分泌遗传代谢科就诊的3例WSS患儿的一般资料、临床特点、生长激素激发试验等实验室检测、垂体磁共振等影像学检查结果,予以重组人生长激素(recombinant human growth hormone, rhGH)治疗,对先证者及家系进行遗传学检测。 结果 3例WSS患儿中男2例、女1例,4.8~11.3岁,均因身材矮小就诊,伴智力落后、特殊面容、多毛;病例3生长激素激发试验结果提显示生长激素缺乏,且伴骨龄明显落后;3例患儿垂体磁共振均正常,均予rhGH治疗1~5年,身高分别增加0.9 SD、1 SD、2.2 SD,其中病例3随访至终身高为157.9 cm。基因检测结果示KMT2A基因杂合变异,分别为chr11:118353970-118356519 区域存在 2.5 Kb片段的杂合缺失、c.11081delp.K3694Sfs*3、c.5803-3T>G,3例基因变异均为未报道过的新变异,最终诊断WSS。 结论 对表现为生长发育迟缓、智力落后、特殊面容、多毛症等患儿需考虑WSS,上述发现拓宽了KMT2A基因的变异谱和临床表型谱。
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