【摘要】 目的 总结儿童Shwachman-Diamond综合征(SDS)的相关基因突变及临床特点。方法 回顾性分析郑州大学第一附属医院收治的6例SDS患儿临床资料，检索中国知网、万方数据库及PubMed数据库建库至2022年7月的相关文献，总结SDS相关基因突变、肿瘤易感性机制、SBDS基因突变的临床特点。结果 6例患儿于生后1～10 d发病，确诊年龄为1月余至13岁，明显生长落后4例，粪便可见脂肪滴3例，肝功能异常3例，血细胞减少3例，反复呼吸道感染3例，既往腹泻/腹胀病史3例，尿路感染病史2例。6例患儿均为SBDS基因突变。检索到SBDS、SRP54、DNAJC21、EFL1基因突变导致的SDS分别为487、30、19、10例，男性较女性多见，以血细胞减少、肝功能异常、反复感染病史为常见临床表现，为多系统受累疾病。结论 我国SDS患者几乎均为SBDS基因突变，SDS发病主要与核糖体成熟的破坏有关，SBDS突变影响p53发挥肿瘤抑制作用且常伴有TP53突变导致肿瘤易感性增加。本病起病较早，首发临床表现多样，缺乏特异性，症状不典型者应尽早行遗传学检查以免延误诊治，恶性转化前需及早行造血干细胞移植。更多还原

【Abstract】 Objective To summarize the related gene mutations and clinical features of Shwachman-Diamond syndrome in children.Methods The clinical data of 6 children with SDS treated at the First Affiliated Hospital of Zhengzhou University were analyzed retrospectively. Searched relevant literature on CNKI, Wanfang Database and PubMed database from establishment of the database to July 2022. Summarize SDS-related gene mutations, tumor susceptibility mechanisms, and clinical features of SBDS gene mutations.Results The onset occurred in 6 children from 1 day to 10 days after birth, and the age of diagnosis was from more than 1 month to 13 years old. They had obvious growth retardation(4 cases), fat droplets in the stool(3 cases), abnormal liver function(3 cases), decreased blood cells(3 cases), recurrent respiratory infection(3 cases), previous history of diarrhea/bloating(3 cases), history of urinary tract infection(2 cases) and 6 cases of SBDS gene mutation. The SDS caused by SBDS, SRP54, DNAJC21 and EFL1 gene mutation were 487, 30, 19 and 10 cases, respectively, which were more common in males than females. The common clinical manifestations were cytopenias, abnormal liver function and repeated infection history, which were multi-system involved diseases.Conclusion Almost all SDS patients in our country are SBDS gene mutations. SDS pathogenesis is mainly related to destruction of ribosome maturation. SBDS mutations affect tumor inhibition of p53 and are often accompanied by TP53 mutations leading to increased tumor susceptibility. The onset of this disease is early, the initial clinical manifestations are diverse and lack of specificity, and genetic examination should be performed as soon as possible to avoid delayed diagnosis and treatment of atypical symptoms. Hematopoietic stem cell transplantation was performed early before malignant transformation.更多还原