目的　分析Shwachman-Diamond综合征（SDS）的基因异常及肝脏病理。 方法　回顾分析1例SDS患儿的临 床资料。结果　患儿，男， 1月龄起病，以中性粒细胞减少为首发表现，伴贫血、转氨酶升高、反复感染，而胰腺外分泌功能 障碍症状不典型。肝脏穿刺术病理学检测，光镜示肝细胞轻度损害。采集患儿及父母血标本，采用二代基因测序检测发现 SBDS(NM_016038.2) Intron2  c.258+2T>C p.?纯合突变，突变来源于父母亲。 结论　基因检测有助于确诊SDS，有条件 者可行肝脏穿刺术。

　Objective　To analyze the gene abnormality and liver pathology in Shwachman-Diamond syndrome (SDS) in a child. Method　The clinical data of one child with SDS were analyzed retrospectively. Result　A male patient was 1 month old at onset with neutrophil decrease as the first manifestation, accompanied by anemia, elevated transaminase and repeated infection. Exocrine pancreatic dysfunction was atypical. Pathological examination of liver biopsy showed slight damage of liver cells under light microscope. The blood samples of child and parents were collected, and homozygous mutations of SBDS (NM_016038.2) Intron2  c.258+2T>C p.? were detected by two generation gene sequencing. And these mutations were from both his parents. Conclusion　Gene testing is helpful in diagnosing SDS and we suggest that liver biopsy should be performed if condition allows.