PI3Kδ过度活化综合征7例报道  

Activated phosphoinositide 3-kinase delta syndrome:report of seven cases

作　　者：刘清华[1] 彭力[1] 黄寒[1] 邓亮吉 钟礼立[1] LIU Qing-Hua;PENG Li;HUANG Han;DENG Liang-Ji;ZHONG Li-Li(Pediatric Medical Center,First Hospital Affiliated to Hunan Normal University/Hunan Provincial People's Hospital/Hunan Provincial Key Laboratory of Pediatric Respiratory Disease,Changsha 410005,China)

机构地区：[1]湖南师范大学附属第一医院/湖南省人民医院儿童医学中心/儿童呼吸病学湖南省重点实验室,湖南长沙410005 [2]长沙市第四医院儿科,湖南长沙410006

出　　处：《中国当代儿科杂志》2024年第5期499-505,共7页Chinese Journal of Contemporary Pediatrics

基　　金：湖南省儿童呼吸疾病重点实验室项目(2019TP1043)。

摘　　要：目的总结7例PI3Kδ过度活化综合征(activated phosphoinositide 3-kinase delta synd rome,APDS)患儿的临床资料,提高对该病的认识。方法回顾性分析2019年1月—2023年8月湖南省人民医院收治的7例APDS患儿的临床资料。结果7例患儿(男4例,女3例)中位发病年龄为30个月,中位诊断年龄为101个月。临床表现:反复呼吸道感染、肝脾大及多部位淋巴结肿大7例,脓毒血症5例,中耳炎及多发性龋齿3例,腹泻及关节痛2例,淋巴瘤、系统性红斑狼疮各1例。4例患儿行纤维支气管镜检查,管腔内均可见大量散在的结节样突起。最常见的呼吸道病原为肺炎链球菌(4例)。6例患儿为p.E1021K位点错义突变,1例为p.434-475del位点剪切突变。结论p.E1021K是APDS患儿最常见的突变位点。对于具有反复呼吸道感染、肝脾大、多部位淋巴结肿大、中耳炎、龋齿等表现1项或多项,且纤维支气管镜下见散在结节样突起的患儿,需警惕APDS。Objective To summarize the clinical data of 7 children with activated phosphoinositide 3-kinase delta syndrome(APDS)and enhance understanding of the disease.Methods A retrospective analysis was conducted on clinical data of 7 APDS children admitted to Hunan Provincial People's Hospital from January 2019 to August 2023.Results Among the 7 children(4 males,3 females),the median age of onset was 30 months,and the median age at diagnosis was 101 months.Recurrent respiratory tract infections,hepatosplenomegaly,and multiple lymphadenopathy were observed in all 7 cases.Sepsis was observed in 5 cases,otitis media and multiple caries were observed in 3 cases,and diarrhea and joint pain were observed in 2 cases.Lymphoma and systemic lupus erythematosus were observed in 1case each.Fiberoptic bronchoscopy was performed in 4 cases,revealing scattered nodular protrusions in the bronchial lumen.The most common respiratory pathogen was Streptococcus pneumoniae(4 cases).Six patients had a p.E1021K missense mutation,and one had a p.434-475del splice site mutation.Conclusions p.E1021K is the most common mutation site in APDS children.Children who present with one or more of the following symptoms:recurrent respiratory tract infections,hepatosplenomegaly,multiple lymphadenopathy,otitis media,and caries,and exhibit scattered nodular protrusions on fiberoptic broncho scopy,should be vigilant for APDS.

关 键 词：PI3Kδ过度活化综合征 反复呼吸道感染 肝脾大 淋巴结肿大 结节样突起 儿童 

分 类 号：R725.9[医药卫生—儿科]