Han Xue, Shen Tao, Gu Changjuan, Qiao Xiaohong, Xie Xiaotian
Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Aug 10;40(8):939-946. doi: 10.3760/cma.j.cn511374-20220907-00611.
To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis.
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.
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).
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.
探讨中国儿童施瓦赫曼-戴蒙德综合征（SDS）的特点，为早期诊断提供参考。
以施瓦赫曼-戴蒙德综合征、SDS、SBDS基因及遗传性骨髓衰竭为关键词，检索时间设定为2002年1月至2022年10月。从万方数据库和中国知网（CNKI）数据库检索相关文献。此外，以施瓦赫曼-戴蒙德综合征为关键词，同样检索2002年1月至2022年10月期间的Web of Science、PubMed和MEDLINE数据库。纳入1例在同济医院接受治疗的SDS患儿。参照SDS诊断国际标准，对44例临床资料完整的病例进行分析。采用卡方检验和t检验进行统计学分析。以系统评价的形式开展循证研究。总结中国SDS患儿的流行病学、临床特征及早期诊断要点，并与国际数据进行比较。
中国儿童SDS的主要特点总结如下：男女比例约为1.3∶1，发病中位年龄为3个月，诊断中位年龄为14个月。首发症状常为外分泌性胰腺功能不全（31.8%）和粒细胞减少伴感染（31.8%）。根据国际共识，SDS三大主要疾病的发生率分别为血细胞减少（95.4%）、胰腺疾病（72.7%）和骨骼异常（40.9%）。SDS疾病的常见因素是SBDS基因变异（c.258+2T>C和c.183_184TA>CT），尽管基因型与表型之间无显著相关性（P>0.05）。与国际报道相比，中国SDS患儿的临床表现和基因型存在差异（P<0.05）。
SDS患儿发病年龄早且个体差异显著。有必要分析病例相关数据，以促进早期识别、诊断及临床干预。
