Shwachman-Diamond综合征1例报告及文献复习  

Shwachman-Diamond syndrome:a case report and literature review

作　　者：王璐[1] 俞蕙[1] 吴霞[1] WANG Lu;YU Hui;WU Xia(Pediatric Hospital of Fudan University,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院,上海201102

出　　处：《临床儿科杂志》2020年第4期294-297,共4页Journal of Clinical Pediatrics

摘　　要：目的分析Shwachman-Diamond综合征(SDS)的临床和基因特征。方法回顾分析1例经基因检测明确诊断的SDS患儿的临床资料,并结合相关的文献资料总结SDS综合征的临床表现、基因特征及治疗。结果患儿,男,14月龄。以反复肝功能异常为首发临床表现,伴生长发育落后、外周血象中性粒细胞绝对计数<1.5×10^9/L,无典型胰腺外分泌功能障碍,四肢长骨X线表现骨龄落后伴骨质密度异常,腹部CT无胰腺脂肪化。基因测序结果提示患儿SBDS基因c.258+2T>C纯合变异。结论SDS典型表现为胰腺脂肪化和外分泌不足,血象异常尤其是中性粒细胞减少和骨骼异常。对疑似患儿及时进行基因检测有助于早期诊断及治疗。Objective To explore the clinical and genetic characteristics of Shwachman-Diamond syndrome(SDS).Methods The clinical data of SDS in a child diagnosed by gene detection were analyzed retrospectively,and the clinical manifestations,gene characteristics and treatment of SDS were summarized based on the related literature.Results The 14-month-old boy presented with recurrent abnormal liver function as the first clinical manifestation,accompanied by developmental retardation.The absolute peripheral neutrophil count was less than 1.5×10^9/L.There was no typical pancreatic exocrine dysfunction in the children,the X-ray of the long bones of the limbs showed bone age lag with abnormal bone density,and the abdominal CT showed no pancreatic fatty infiltration.Gene sequencing suggested the c.258+2T>C homozygous variation of SBDS gene.Conclusions SDS is typically characterized by pancreatic fat infiltration and exocrine dysfunction,hematological abnormalities(especially neutropenia),and skeletal abnormalities.Timely genetic testing of suspected children helps early diagnosis and treatment.

关 键 词：Shwachman-Diamond综合征 肝功能异常 基因检测 

分 类 号：R725.9[医药卫生—儿科]