陈姣,刘周阳,李晓霞,樊世芬,姜帆,孙媛

• 1:北京北京京都儿童医院血液科

摘要(Abstract)：

目的 总结Shwachman-Diamond综合征(SDS)临床特点，探索异基因造血干细胞移植(HSCT)治疗SDS的安全性及有效性。方法 回顾性分析2015年7月—2024年6月在我院收治的SDS患者的临床资料，并复习相关文献。结果 共纳入39例，男女比例1.6∶1。90%患者有SBDS基因等位突变，c.258+2T>C突变最常见(97.4%)。中位发病年龄<1(<1～146)个月；中位诊断年龄14个月(1天～15岁)。38例有血细胞减少(97.4%)。90.3%有胰腺形态或回声异常。慢性腹泻(89.7%)、肝脏损害(86.8%)、身材矮小(身高低于2SD以上59%)为三大临床特征。14例于我院完成HSCT,均植入成功，12例(85.7%)存活。结论 SDS主要表现为血细胞减少、胰腺外分泌功能不全、腹泻、肝功能异常及生长发育迟缓，c.258+2T>C是SBDS基因最常见突变位点。如SDS合并严重血液学异常，造血干细胞移植是有效的治疗手段。

关键词(KeyWords)： Shwachman-Diamond综合征;SBDS基因;血细胞减少;胰腺外分泌功能不全;造血干细胞移植

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 陈姣,刘周阳,李晓霞,樊世芬,姜帆,孙媛

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