中国儿童Shwachman-Diamond综合征的表现特征与诊治研究

doi:10.7499/j.issn.1008-8830.1911111

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摘要

为阐明中国儿童Shwachman-Diamond综合征（SDS）的疾病特征，作为临床早期诊断和合理治疗的参考依据，该文通过网络收集历年文献报道的27例中国SDS患儿的临床资料，分析归纳中国儿童SDS流行病学、临床特征和诊治要点，并与国际文献病例资料进行对比。结果显示，中国儿童SDS男女之比约2：1，起病年龄 < 1个月至5岁（中位数1个月），确诊年龄3个月至12岁（中位数12个月）。27例SDS患儿均存在骨髓造血抑制所致外周血细胞减少，其中中性粒细胞缺乏最常见（93%）。慢性腹泻（85%）、肝脏损害（78%）和身材矮小（83%）是SDS的三大临床特征。补充胰酶和成分输血等可能暂时缓解病情，异基因造血干细胞移植仍为有效根治措施。与国外资料对比显示，中国SDS患儿慢性腹泻、外周3系血细胞减少和肝脏损害的发生率均高于欧美，突变基因类型也存在一定差异。

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关键词 ： Shwachman-Diamond综合征, 遗传性骨髓衰竭综合征, 罕见病, 临床特征, 基因突变, 儿童

Abstract：In order to clearly define the features of Shwachman-Diamond syndrome (SDS) in Chinese children, this article analyzes and summarizes the epidemiology, clinical features, and key points in the diagnosis and treatment of SDS in Chinese children with review of the clinical data of 27 children with SDS from related articles published previously. A comparative analysis was made between the Chinese and international data related to childhood SDS. The results showed a male/female ratio of about 2:1 in the Chinese children with SDS, with an age of onset of < 1 month to 5 years (median 1 month) and an age of 3 months to 12 years (median 12 months) at the time of confirmed diagnosis. Reductions in peripheral blood cells due to myelopoiesis inhibition were observed in all 27 children with SDS, among whom 93% had neutropenia. Chronic diarrhea (85%), liver damage (78%), and short stature (83%) were the three main clinical features of SDS. Supplementation of pancreatin and component blood transfusion may temporarily alleviate the disease, while allogeneic hematopoietic stem cell transplantation is still an effective radical treatment. The comparative analysis of the Chinese and oversea data showed that compared with those in the European and American countries, the children with SDS in China had significantly higher incidence rates of chronic diarrhea, reductions in peripheral blood cells (three lineages), and liver damage, and there were also differences in the type of mutant genes.

Key words： Shwachman-Diamond syndrome Inherited bone marrow failure syndrome Rare disease Clinical feature Gene mutation Child

收稿日期: 2019-11-22

通讯作者: 谢晓恬,男,主任医师。Email:xtxie@163.com。 E-mail: xtxie@163.com

作者简介: 谭丽群,女,硕士,副主任医师。

引用本文:

谭丽群,傅晓燕,谢晓恬. 中国儿童Shwachman-Diamond综合征的表现特征与诊治研究[J]. 中国当代儿科杂志, 2020, 22(5): 505-511.

TAN Li-Qun,FU Xiao-Yan,XIE Xiao-Tian. Clinical features, diagnosis, and treatment of Chinese children with Shwachman-Diamond syndrome[J]. CJCP, 2020, 22(5): 505-511.

链接本文:

http://www.zgddek.com/CN/10.7499/j.issn.1008-8830.1911111 或 http://www.zgddek.com/CN/Y2020/V22/I5/505

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