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.
作者
王璐
俞蕙
吴霞
WANG Lu;YU Hui;WU Xia(Pediatric Hospital of Hehai University,Shanghai 201102,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2020年第4期294-297,共4页
Journal of Clinical Pediatrics
