摘要
目的总结1例由SBDS基因变异导致Shwachman-Diamond综合征误诊为特发性矮身材的临床特点。方法回顾性分析患儿临床资料,实验室、影像学检查结果及基因检测资料,并随访相关情况。结果患儿男,10岁11月龄,临床表现为身材矮小,实验室检查提示贫血、血小板减少,生长激素激发实验峰值31μg/L,trio-WES检测结果显示先证者SBDS基因存在c.258+2T>C和c.286T>C复合杂合突变,分别遗传自先证者母亲和父亲;其弟弟检出相同SBDS基因复合杂合突变,并且伴身材矮小、贫血、血小板减少、白细胞减少。c.286T>C在文献数据库中尚无该位点的报道,为新发突变位点;生长激素治疗半年,身高增长2.1 cm,治疗效果不佳。定期门诊随访,目前仍有贫血、血小板减少。结论矮小合并骨髓衰竭表现的儿童,需考虑Shwachman-Diamond综合征,建议完善基因检查。c.286T>C为新发突变位点。此患儿生长激素应用效果不佳。
Objective To review the clinical features and genetic test results of a case of Shwachman-Diamond syndrome caused by SBDS gene mutation but misdiagnosed as idiopathic short stature.Methods Clinical data,laboratory and imaging results and genetic data were collected and followed up.Results The patient was a boy aged 10 years and 11 months.Clinical manifestations included short stature,anemia and thrombocytopenia were indicated by laboratory examination,and the peak value of growth hormone stimulation test was 31μg/L.Trio whole-exome sequencing revealed the presence of c.258+2T>C and c.286T>C complex heterozygous mutation,inherited from the proband's mother and father respectively;His younger brother also carried the same SBDS gene complex heterozygous mutations and exhibited similar clinical features,including short stature,anemia,thrombocytopenia,and leukopenia.Notably,the c.286T>C has not been previously reported in the literature and represents a novel mutation site.Growth hormone treatment for half a year,the height increased by 2.1 cm,indicating poor therapeutic efficacy.Regular outpatient follow-up shows that there is still anemia and thrombocytopenia.Conclusion presenting with short stature complicated by bone marrow failure should be evaluated for Shwachman-Diamond syndrome,and genetic examination should be improved.The c.286T>C mutation identified in this case is a novel mutation site.In this instance,growth hormone therapy proved ineffective.
作者
徐鑫星
蒋丽琼
朱建芳
王春林
XU Xinxing;JIANG Liqiong;ZHU Jianfang;WANG Chunlin(Department of Pediatrics,the First Affiliated Hospital,Zhejiang University Schoolof Medicine,Hangzhou 311100,Zhejiang,China)
出处
《临床儿科杂志》
北大核心
2025年第5期371-375,共5页
Journal of Clinical Pediatrics
基金
中华国际医学交流基金会-中国儿童生长发育学术交流专项基金项目(No.Z-2019-41-2303)。
