背景:Shwachman-Diamond综合征(SDS)是一种常染色体隐性遗传性疾病,可导致遗传性骨髓衰竭(IBMF),其特征是胰腺外分泌功能障碍和多种临床表型。在本研究中,我们回顾了国际上发表的关于SDS患者的报告,为了总结临床特征,流行病学,和SDS的治疗。
方法:我们搜索了王坊和中国国家知识基础设施数据库,关键字为“Shwachman-Diamond综合征”,\"\"SDS,“SBDS基因”和“遗传性骨髓衰竭”为2002年1月至2022年10月发表的相关文章。此外,2002年1月至2022年10月发表的研究从科学网检索,PubMed,和MEDLINE数据库,使用“Shwachman-diamond综合征”作为关键字。最后,还包括在同济医院接受SDS治疗的一名儿童。
结果:总结156例SDS患者的临床特征。SDS的三个主要临床特征是外周血细胞减少(96.8%),胰腺外分泌功能障碍(83.3%),未能茁壮成长(83.3%)。SDS突变检出率为94.6%(125/132)。SBDS中的突变,已经报道了DNAJC21、SRP54、ELF6和ELF1。男女比例约为1.3/1。发病年龄中位数为0.16岁,但是诊断年龄的中位数为1.3岁。
结论:胰腺外分泌功能不全和生长障碍是常见的初始症状。SDS发病发生在儿童早期,个体差异明显。综合收集和分析病例相关数据可以帮助临床医生了解SDS的临床特点,提高早期诊断水平,促进临床有效干预。
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disease which results in inherited bone marrow failure (IBMF) and is characterized by exocrine pancreatic dysfunction and diverse clinical phenotypes. In the present study, we reviewed the internationally published reports on SDS patients, in order to summarize the clinical features, epidemiology, and treatment of SDS.
We searched the WangFang and China National Knowledge Infrastructure databases with the keywords \"Shwachman-Diamond syndrome,\" \"SDS,\" \"SBDS gene\" and \"inherited bone marrow failure\" for relevant articles published from January 2002 to October 2022. In addition, studies published from January 2002 to October 2022 were searched from the Web of Science, PubMed, and MEDLINE databases, using \"Shwachman-diamond syndrome\" as the keyword. Finally, one child with SDS treated in Tongji Hospital was also included.
The clinical features of 156 patients with SDS were summarized. The three major clinical features of SDS were found to be peripheral blood cytopenia (96.8%), exocrine pancreatic dysfunction (83.3%), and failure to thrive (83.3%). The detection rate of SDS mutations was 94.6% (125/132). Mutations in SBDS, DNAJC21, SRP54, ELF6, and ELF1 have been reported. The male-to-female ratio was approximately 1.3/1. The median age of onset was 0.16 years, but the diagnostic age lagged by a median age of 1.3 years.
Pancreatic exocrine insufficiency and growth failure were common initial symptoms. SDS onset occurred early in childhood, and individual differences were obvious. Comprehensive collection and analysis of case-related data can help clinicians understand the clinical characteristics of SDS, which may improve early diagnosis and promote effective clinical intervention.