Activated phosphoinositide 3-kinase delta syndrome:report of seven cases
10.7499/j.issn.1008-8830.2312065
- VernacularTitle:PI3Kδ过度活化综合征7例报道
- Author:
Qing-Hua LIU
1
;
Li PENG
;
Han HUANG
;
Liang-Ji DENG
;
Li-Li ZHONG
Author Information
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
- Keywords:
Activated phosphoinositide 3-kinase delta syndrome;
Recurrent respiratory tract infection;
Hepatosplenomegaly;
Lymphadenopathy;
Nodular protrusion;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(5):499-505
- CountryChina
- Language:Chinese
-
Abstract:
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 1 case 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 bronchoscopy,should be vigilant for APDS.[Chinese Journal of Contemporary Pediatrics,2024,26(5):499-505]
