山东大学学报 (医学版) ›› 2021, Vol. 59 ›› Issue (3): 107-112.doi: 10.6040/j.issn.1671-7554.0.2020.1386
黄秀丽,刘丙菊,孙立锋
HUANG Xiuli, LIU Bingju, SUN Lifeng
摘要: 目的 探讨PI3Kδ过度活化综合征(APDS)的临床表现、基因突变特征及治疗方法。 方法 回顾性分析确诊的1例APDS患儿的临床资料,并进行文献复习,总结其临床表现、基因突变特点及治疗预后。 结果 患儿,女,9岁,因“反复咳嗽8年,腹泻3年,肝功异常2年”入院;胸腹部CT:右肺中叶部分肺组织膨胀不全,其内支气管扩张,肝大,脾大,腹腔、腹膜后、盆腔多发肿大淋巴结;CD4+/CD8+倒置,IgG正常,IgM升高,基因结果:PIK3CD基因杂合突变c.3061G>A(p.E1021K),确诊为APDS1;予以免疫球蛋白替代及雷帕霉素口服治疗,随访1年2个月后,肝、脾及淋巴结明显缩小,大便正常,未再出现反复呼吸道感染;以“PI3Kδ过度活化综合征”“激活P13Kδ综合征”为关键词检索万方医学及中国知网数据库,以“activated phosphoinositide 3-kinase δ syndrome”“activated PI3Kδ syndrome” “PIK3CD”“PIK3R1”“APDS”为关键词检索Pubmed数据库,目前中外共报道285例,其中国内报道42例,加上本例共43例,仅1例为APSD2型;与国外报道相比,我国APDS患者支气管扩张及高IgM的发生率更高,尚无合并恶性肿瘤的报道。APDS1型热点突变是c.3061 G>A(p. E1021K),APDS2型热点突变为c.1425+1 G>(A, C, T)(p.434-475del)。 结论 APDS是一种罕见的以抗体缺陷为主的原发性免疫缺陷病,多表现为反复呼吸道感染、支气管扩张、非肿瘤性淋巴组织增生、慢性腹泻、自身免疫性疾病、恶性肿瘤、发育延迟、免疫学检查CD4+/CD8+倒置、高IgM、IgG具有多变性;免疫球蛋白替代治疗能减少感染机会,雷帕霉素可改善肝、脾和淋巴结肿大,造血干细胞移植效果良好。
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