PIK3CD基因变异致儿童PI3Kδ过度活化综合征1型1例报告并文献复习

Activated PI3K delta syndrome caused by PIK3CD gene mutation in a child:a case report and literature review

目的总结PI3Kδ过度活化综合征(APDS)的临床诊治。方法总结1例APDS1型患儿的临床表现、实验室检查以及基因检测结果和治疗经过。结果女性患儿,4岁3个月,主要表现为反复出现呼吸道感染、脾大、淋巴结肿大、肠病,高IgM综合征、T淋巴细胞和CD4+T淋巴细胞比例下降。经全外显子测序诊断为APDS1型,予以抗感染和丙种球蛋白治疗,临床症状明显改善。结论APDS可表现为反复呼吸道感染、淋巴增殖性疾病、肠病以及高IgM综合征等,基因检测可明确诊断。抗感染和丙种球蛋白替代治疗有效。

Objective To explore the clinical features and treatment of activated PI3Kδsyndrome.Methods Clinical manifestations,laboratory examination and genetic testing and treatment in a child with activated PI 3Kδsyndrome 1(APDS)were retrospectively analyzed.Results The main clinical manifestations of this APDS1 patient were recurrent respiratory tract,splenomegaly,lymph node enlargement,enteropathy,hyper IgM syndrome,decreased proportion of T lymphocytes and CD4+T lymphocytes.This patient was diagnosed as activated PI3Kδsyndrome 1 by whole exon sequencing,and was treated with antibiotics and gamma globulin,then the clinical symptoms were significantly improved.Conclusions For patients presenting with recurrent respiratory tract infections,lymphoproliferative diseases,bowel diseases,and hyper IgM syndrome,the possibility of activated PI3Kδsyndrome should be considered,and genetic testing should be performed when necessary to confirm the diagnosis.Combination of antibiotics and gamma globulin replacement therapy could achieve a good clinical outcome.