Shwachman-Diamond综合征2例并文献复习

2 Cases of Shwachman-Diamond Syndrome and Literature Review

摘要: 目的：探讨Shwachman-Diamond综合征(SDS)的儿童临床特征、实验室及影像学表现、基因诊断要点及对症治疗与预后，提升临床对该罕见病的早期识别与规范化诊治水平。方法：回顾性分析2例确诊SDS患儿的完整临床资料，结合国内外最新相关文献进行复习与总结。结果：2例均为学龄期儿童，核心表现为持续性粒细胞减少，伴胰腺结构及功能异常，基因检测均提示SBDS基因致病性突变；病例1合并反复呼吸道感染、肝功能异常、噬血细胞综合征病史，胰腺CT示脂肪浸润伴体积减小，经抗感染、保肝等对症治疗后病情稳定；病例2合并生长发育落后、反复下呼吸道感染，胰腺超声示回声增高，血淀粉酶、脂肪酶水平降低，经胰酶替代、升粒细胞、激素调节等治疗后感染频次可控。结论：SDS以骨髓造血功能不全、胰腺外分泌功能障碍以及骨骼发育异常为核心表型，可累及多个系统，SBDS基因检测是确诊金标准；临床以对症支持治疗为主，早期诊断、个体化干预及长期规律随访是改善患儿预后的关键。

Abstract: Objective: To investigate the clinical characteristics, laboratory and imaging manifestations, key points of genetic diagnosis, symptomatic treatment and prognosis of Shwachman-Diamond syndrome (SDS) in children, so as to improve the clinical ability of early identification and standardized diagnosis and treatment of this rare disease. Methods: The complete clinical data of 2 children diagnosed with SDS were retrospectively analyzed, combined with the latest relevant literature at home and abroad for review and summary. Results: Both cases were school‑age children, with persistent neutropenia as the core manifestation, accompanied by structural and functional abnormalities of the pancreas. Genetic detection revealed pathogenic mutations in the SBDS gene in both cases. Case 1 had a history of recurrent respiratory tract infection, liver dysfunction and hemophagocytic lymphohistiocytosis. Pancreatic CT showed fat infiltration with reduced volume. The condition was stable after symptomatic treatments including anti‑infection and liver protection. Case 2 was complicated with growth retardation and recurrent lower respiratory tract infection. Pancreatic ultrasound showed increased echogenicity, with decreased serum amylase and lipase levels. The frequency of infection was controllable after treatments including pancreatic enzyme replacement, granulocyte elevation therapy and hormone regulation. Conclusion: SDS is characterized by bone marrow hematopoietic insufficiency, exocrine pancreatic dysfunction and skeletal dysplasia as core phenotypes, and can involve multiple systems. SBDS gene detection is the gold standard for diagnosis. Clinical management is mainly based on symptomatic and supportive therapy. Early diagnosis, individualized intervention and long‑term regular follow‑up are the keys to improving the prognosis of children with SDS.