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·诊疗分析·

Shwachman-Diamond 综合征三例临床诊治和基因分析

孙青，谢瑶，吴鹏辉，李硕，赵卫红 * 扫描二维码
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【摘要】 背景 Shwachman-Diamond 综合征（SDS）是一种罕见的常染色体隐性遗传病，临床表现复杂多样，
随着基因组测序的应用和临床灵敏性的提高，对儿童和成人 SDS 的诊断较前明显增多，但国内多数 SDS 患者诊断后缺
乏系统规范的治疗。目的 分析 3 例 SDS 患儿的临床特征和诊疗经过，以增强临床医生对该病的认识，减少漏诊和误诊，
规范确诊患儿的治疗方案。方法 收集 2018 年 10 月至 2020 年 10 月在北京大学第一医院儿科治疗的 3 例 SDS 患儿的
临床表现、实验室检查、基因分析、治疗方案和随访情况等资料，结合相关文献，分析并总结儿童 SDS 的临床诊治经过。
结果 3 例 SDS 患儿中 2 例为女性，1 例为男性，均有反复感染、脂肪泻、身材矮小及营养不良等表现，例 2 有并指畸形。
辅助检查提示 3 例患儿均有中性粒细胞减少，例 1 合并重度贫血，例 2 合并血小板减少；3 例患儿均有肝功能异常，
均为 SBDS 基因复合杂合突变，突变位点均为 c.258+2T>C 和 c.184A>T。治疗方面，3 例患儿均给予胰酶替代、营养支
持、保肝等治疗；例 1 需要依赖红细胞输注，给予小剂量泼尼松治疗后贫血明显改善。结论 SDS 为多系统受累疾病，
早期进行基因检测可以提高诊断率，治疗上需给予多学科综合治疗。减低剂量预处理的造血干细胞移植能改善 SDS 患
儿的部分临床表现，但需严格掌握移植适应证。对于红系增生低下且暂时不具备造血干细胞移植条件的 SDS 患儿可以
试用小剂量短疗程的糖皮质激素治疗，以减轻对血制品的依赖。
【关键词】 Shwachman-Diamond 综合征；儿童；SBDS 基因；基因分析；治疗结果
【中图分类号】 R 576 【文献标识码】 A DOI：10.12114/j.issn.1007-9572.2021.01.603
孙青，谢瑶，吴鹏辉，等 . Shwachman-Diamond 综合征三例临床诊治和基因分析［J］. 中国全科医学，2022，25（5）：
620-624，635. ［www.chinagp.net］.
SUN Q，XIE Y，WU P H，et al. Clinical management and genetic features of 3 cases of shwachman-diamond
syndrome［J］. Chinese General Practice，2022，25（5）：620-624，635.

Clinical Management and Genetic Features of 3 Cases of Shwachman-Diamond Syndrome SUN Qing，XIE Yao，WU
Penghui，LI Shuo，ZHAO Weihong *
Department of Pediatrics，Peking University First Hospital，Beijing 100034，China
*
Corresponding author：ZHAO Weihong，Chief physician；E-mail：zhaowh3212@126.com
【Abstract】 Background Shwachman-Diamond syndrome （SDS） is a rare autosomal recessive genetic disease that
has complex and various clinical presentations. With the increase in application and clinical sensitivity of genome sequencing，
the diagnoses of SDS in children and adults using genome sequencing have increased significantly，but most Chinese SDS patients
have not received systematic and standardized treatment after diagnosis. Objective To analyze the clinical characteristics，
diagnosis and treatment of three children with SDS，expecting to improve clinicians' recognition of this disease，reduce the
possibilities of missed diagnosis and misdiagnosis，and standardize the treatment of diagnosed children. Methods Data of three
children with SDS were collected from Department of Pediatrics，Peking University First Hospital from October 2018 to October
2020，including clinical manifestations，laboratory examination，gene analysis，treatment and follow-up，and were analyzed.
In combination with the review of other relevant literature，the diagnosis and treatment of pediatric cases of SDS were summarized.
Results Among the three cases encountered and treated by us，two were female and one was male. All of them had recurrent
infection，fatty diarrhea，short stature and malnutrition. Case 2 also had syndactyly. Auxiliary tests suggested that all these cases
had neutropenia and abnormal liver function. Besides that，case 1 also had severe anemia，and case 2 had thrombocytopenia.
Two compound heterozygous mutations of SBDS gene，that is，c.258 + 2T>C and c.184A>T，were found in all three cases.
For treatment，all three patients were given pancreatic enzyme replacement therapy，nutritional support，and hepatoprotective
treatment. The anemia of case 1，which was dependent on suspended red blood cell transfusion，was obviously improved after

100034 北京市，北京大学第一医院儿科
*
通信作者：赵卫红，主任医师；E-mail：zhaowh3212@126.com
本文数字出版日期：2022-01-17