目的 探讨Shwachman-Diamond 综合征（SDS）患儿的临床表型和基因变异特点。方法 选取2018年1月至2023年9月于儿内分泌遗传科长期随访的7例SDS患儿，收集其临床资料，采集外周血样进行外显子组测序（ES）分析，并通过Sanger 测序对变异位点进行家系验证。结果 7例SDS患儿中男3例、女4例，初诊中位年龄为3.0（0.9~4.0）岁，6例为SBDS基因缺陷，1例为EFL1基因缺陷。6例SBDS缺陷的患儿中，5例携带复合杂合突变，2例为c.258+2T>C/c.183_184delinsCT，1例为c.258+2T>C/c.40A>G，1例为c.258+2T>C/c.184A>T，1例为c.258+2T>C/第3外显子杂合缺失；余1例携带c.258+2T>C纯合突变。SBDS缺陷患儿以矮小（6/6，100%）伴慢性腹泻（3/6，50%）和反复呼吸道感染（1/6，16.7%）就诊，经检查发现6例（100%）均存在中性粒细胞减少和肝酶升高，4例有骨骼发育异常表现，3例有胰腺外分泌功能不全表现。1例EFL1缺陷患儿携带复合杂合突变（c.2260C>T/c.316G>A），表现为矮小和骨骼发育异常，但无胰腺和血液系统受累。结论 SBDS缺陷患儿具有异质性的临床表型，以上发现丰富了中国SDS的表型谱和变异谱，并首次在中国人群中报道了1例EFL1变异患儿的临床特征。对矮小合并中性粒细胞减少、胰腺外分泌功能障碍、骨骼畸形等症状的患儿，应完善基因检测以免漏诊SDS。

Objective To investigate the clinical phenotype and genetic variant characteristics of children with Shwachman-Diamond syndrome (SDS). Methods From January 2018 to September 2023, seven children with SDS under long-term follow-up in the Department of Pediatric Endocrine and Genetics were selected as the research objects. The clinical data of children were gathered and peripheral blood samples were collected for exome sequencing (ES), and lineage validation of the variants was performed by Sanger sequencing. Results Among the 7 children with SDS, 3 were boys and 4 were girls. The median age at first diagnosis was 3.0 (0.9-4.0) years. Six patients carried SBDS defects and one case carried EFL1 defect. Among the six patients with SBDS deficiency, five of them carried compound heterozygous variants (two cases with the variants of c.258+2T>C/c.183_184delinsCT, one case with c.258+2T>C/c.40A>G, one case with c.258+2T>C/c.184A>T, one case with c.258+2T>C/ heterozygous deletion of exon 3), and the remaining one patient carried SBDS homozygous variation (c.258+2T>C). Patients with SBDS deficiency were initially diagnosed with short stature (6/6, 100%), and combined with chronic diarrhea (3/6, 50%) and recurrent respiratory infections (1/6, 16.7%). Through examination, all the six patients with SBDS deficiency (100%) were found to have neutropenia and elevated liver enzymes. Four cases had skeletal dysplasia and 3 cases had exocrine pancreatic dysfunction. One SDS patient was confirmed to carry compound heterozygous variants of EFL1 (c.2260C>T/c.316G>A). The main clinical manifestations included short stature and abnormal skeletal development, without pancreatic and blood system involvement. Conclusions Children with SBDS deficiency presented clinical phenotypic heterogeneity. The phenotypic spectrum and variation spectrum of SDS in China were enriched, and an SDS patient with EFL1 variant was reported for the first time in the Chinese population. For children with short stature and symptoms such as neutropenia, exocrine pancreatic dysfunction, and skeletal deformities, genetic testing should be completed to avoid missing the diagnosis of SDS.