1例PIK3CD基因突变致PI3Kδ过度活化综合征患儿的护理经验分析

Analysis of nursing experience of children with activated phosphoinositide 3-kinaseδsyndrome caused by PIK3CD gene mutation

目的分析1例PIK3CD基因突变致PI3Kδ过度活化综合征(APDS)患儿的护理经验。方法通过列举APDS的临床资料,结合文献复习,发现护理问题,给予针对性的护理措施。结果经过本次住院治疗、护理后,患儿腹围由之前的101.5 cm降至87.5 cm,咳嗽较前减轻,水肿消退,腹水明显减少,体重未减轻,患儿生存质量较前有所提高。结论PIK3CD基因突变致APDS为罕见遗传免疫缺陷病,护理参考资料较少,积累此类患儿的护理经验有助于患儿住院期间生存质量的提高。

Objective To analyze the nursing experience of children with activated phosphoinositide 3-kinase δ syndrome(APDS)caused by PIK3CD gene mutation.Methods By listing the clinical data of APDS,combined with literature review,nursing problems were found and targeted nursing measures were given.Results After this hospitalization and nursing,the abdominal circumference of the children decreased from 101.5 cm to 87.5 cm,the cough is lighter than before,the edema was subsided,the ascites was significantly reduced,and the quality of life of the children was improved.Conclusion APDS caused by PIK3CD gene mutation is a rare genetic immunodeficiency disease,and there are few nursing reference materials.Accumulating the nursing experience of such children is helpful to improve the quality of life of the children in hospital.