Abstract：
OBJECTIVE: To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis.
METHODS: With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the Chinese SDS children were summarized and compared with the international data.
RESULTS: The main characteristics of SDS in Chinese children were summarized as follows: The ratio of males to females was about 1.3 : 1, the median age of onset was 3 months, and the median age of diagnosis was 14 months. The first symptoms were often exocrine pancreatic insufficiency (31.8%) and granulocytopenia with infection (31.8%). According to the international consensus, the incidence rates of the three major diseases of SDS were hemocytopenia (95.4%), pancreatic disease (72.7%), and bone abnormality (40.9%). The common factors underlying SDS disease were variants of the SBDS gene (c.258+2T>C and c.183_184TA>CT), albeit there was no significant correlation between genotype and phenotype (P > 0.05). Compared with international reports, the clinical manifestations and genotypes of Chinese SDS children are different (P < 0.05).
CONCLUSIONS: The SDS children have an early age of onset and significant individual difference. It is necessary to analyze the case-related data to facilitate early recognition, diagnosis and clinical intervention.
METHODS: With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the Chinese SDS children were summarized and compared with the international data.
RESULTS: The main characteristics of SDS in Chinese children were summarized as follows: The ratio of males to females was about 1.3 : 1, the median age of onset was 3 months, and the median age of diagnosis was 14 months. The first symptoms were often exocrine pancreatic insufficiency (31.8%) and granulocytopenia with infection (31.8%). According to the international consensus, the incidence rates of the three major diseases of SDS were hemocytopenia (95.4%), pancreatic disease (72.7%), and bone abnormality (40.9%). The common factors underlying SDS disease were variants of the SBDS gene (c.258+2T>C and c.183_184TA>CT), albeit there was no significant correlation between genotype and phenotype (P > 0.05). Compared with international reports, the clinical manifestations and genotypes of Chinese SDS children are different (P < 0.05).
CONCLUSIONS: The SDS children have an early age of onset and significant individual difference. It is necessary to analyze the case-related data to facilitate early recognition, diagnosis and clinical intervention.
摘要：
目的：探讨中国儿童Shwachman-Diamond综合征(SDS)的特点，为早期诊断提供参考。
方法：Shwachman-Diamond综合征，SDS,以SBDS基因和遗传性骨髓衰竭为关键词,搜索期为2002年1月至2022年10月。从万方数据库和中国国家知识基础设施(CNKI)数据库检索相关文献。此外,通过使用Shwachman-diamond综合征作为关键字，搜索期也是从科学网检索到的，PubMed,和MEDLINE数据库，从2002年1月到2022年10月。还包括在同济医院接受SDS治疗的儿童。根据SDS诊断国际标准对44例临床资料完整的病例进行分析。统计学分析采用卡方检验和t检验。循证研究以系统评价的形式进行。流行病学,总结中国儿童SDS的临床特点和早期诊断要点,并与国际资料进行比较。
结果：中国儿童SDS的主要特征总结如下：男女比例约为1.3：1，发病年龄中位数为3个月，诊断年龄中位数为14个月.首发症状常为胰腺外分泌功能不全(31.8%)和粒细胞减少伴感染(31.8%)。根据国际共识,SDS三大疾病的发病率依次为血细胞减少(95.4%),胰腺疾病（72.7%），骨异常（40.9%）。导致SDS疾病的常见因素是SBDS基因的变异（c.2582T>C和c.183_184TA>CT），尽管基因型和表型之间没有显着相关性（P>0.05）。与国际报道相比，中国儿童SDS的临床表现和基因型不同(P<0.05)。
结论：SDS儿童发病年龄较早，个体差异显著。有必要对病例相关资料进行分析,以利于早期识别,诊断和临床干预。
方法：Shwachman-Diamond综合征，SDS,以SBDS基因和遗传性骨髓衰竭为关键词,搜索期为2002年1月至2022年10月。从万方数据库和中国国家知识基础设施(CNKI)数据库检索相关文献。此外,通过使用Shwachman-diamond综合征作为关键字，搜索期也是从科学网检索到的，PubMed,和MEDLINE数据库，从2002年1月到2022年10月。还包括在同济医院接受SDS治疗的儿童。根据SDS诊断国际标准对44例临床资料完整的病例进行分析。统计学分析采用卡方检验和t检验。循证研究以系统评价的形式进行。流行病学,总结中国儿童SDS的临床特点和早期诊断要点,并与国际资料进行比较。
结果：中国儿童SDS的主要特征总结如下：男女比例约为1.3：1，发病年龄中位数为3个月，诊断年龄中位数为14个月.首发症状常为胰腺外分泌功能不全(31.8%)和粒细胞减少伴感染(31.8%)。根据国际共识,SDS三大疾病的发病率依次为血细胞减少(95.4%),胰腺疾病（72.7%），骨异常（40.9%）。导致SDS疾病的常见因素是SBDS基因的变异（c.2582T>C和c.183_184TA>CT），尽管基因型和表型之间没有显着相关性（P>0.05）。与国际报道相比，中国儿童SDS的临床表现和基因型不同(P<0.05)。
结论：SDS儿童发病年龄较早，个体差异显著。有必要对病例相关资料进行分析,以利于早期识别,诊断和临床干预。
