2023 年第 6 期 第 18 卷

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范丽

英文作者：Ye Zhixu Xiong Xiaofen Cui Yuxia Fan Li

单位：贵州省人民医院儿科，贵阳550002

英文单位：Department of Pediatrics Guizhou Provincial People′s Hospital Guiyang 550002 China

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

英文关键词：Shwachman-Diamondsyndrome;Abnormalliverfunction;Recurrentinfection;Neutropenia;SBDSgenemutation

• 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.