施-戴综合征1例报道及文献复习  

A case report of Shwachman-Diamond syndrome and literature review

作　　者：叶芝旭 熊小芬 崔玉霞[1] 范丽[1] Ye Zhixu;Xiong Xiaofen;Cui Yuria;Fa Ll(Department of Pediatrics,Guizhou Provincial People's Hospital,Guiyang 550002,China)

机构地区：[1]贵州省人民医院儿科,贵阳550002

出　　处：《中国医药》2023年第6期918-921,共4页China Medicine

基　　金：国家自然科学基金(81860003);贵州省(第六批)高层次创新型人才“千”层次人才(GZSYQCC2023011)。

摘　　要：本文回顾分析1例经基因检测明确诊断的施-戴综合征(Shwachman-Diamond综合征,SDS)患儿的临床资料,并结合相关文献总结SDS的临床表现、基因特征及治疗。该患儿为3个月男婴,以反复肺部感染为首发临床表现,伴胰腺外分泌功能障碍(营养不良、发育落后)、肝功能异常及间断中性粒细胞减少。患儿全外显子测序提示SBDS基因exon2杂合缺失和c.258+2T>C半合子突变。因此,对于临床有病因不明的反复肝功能异常、中性粒细胞减少、感染,同时伴有生长发育落后的患儿,应及时进行基因检测以助于早期诊断。The clinical data of a child with Sshwachman-Diamond syndrome(SDS)confirmed by genetic testing are reviewed and analyzed,and the clinical manifestations,genetic characteristics and treatment of SDS are summarized based on relevant literatures.This 3-month old boy presented with recurrent pulmonary infection as the first clinical presentation and accompanied with pancreatic exocrine dysfunction(malnutrition,stunted growth),abnormal liver function and intermittent neutropenia.Whole-exon sequencing revealed exon2 heterozygous SBDS gene deletion and c.258+2T>C hemizygous mutation.Therefore,timely genetic testing should be carried out to facilitate early diagnosis for children with recurrent abnormal liver function,neutropenia and infection of unknown etiology,accompanied by stunted growth.

关 键 词：Shwachman-Diamond综合征 肝功能异常 反复感染 中性粒细胞减少 SBDS基因突变 

分 类 号：R596.1[医药卫生—内科学]