儿童嘌呤核苷磷酸化酶缺乏症1例报告并文献复习  

Clinical features and gene analysis of childhood purine nucleoside phosphorylase deficiency:a case report and literature review

作　　者：钟志娟[1] 吉训琦[1] 陈玉雯[1] 冯小伟[1] ZHONG Zhijuan;JI Xunqi;CHEN Yuwen;FENG Xiaowei(Department of Pediatrics,Hainan General Hospital,Hainan Affiliated Hospital of Hainan Medical University,Haikou 571127,Hainan,China)

机构地区：[1]海南省人民医院海南医学院附属海南医院儿科,海南海口571127

出　　处：《临床儿科杂志》2021年第5期370-372,共3页Journal of Clinical Pediatrics

摘　　要：目的分析总结儿童嘌呤核苷磷酸化酶缺乏症(PNPD)的临床特征。方法回顾分析1例PNPD患儿的临床资料,并复习相关文献。结果男性患儿,1岁9月龄,因面色苍白伴发热、咳嗽入院,既往有反复上呼吸道感染史,运动发育迟缓。血红蛋白88 g/L,网织红细胞11.35%,直接抗人球蛋白试验阳性,CD^(4+)/CD^(8+)T细胞比值低,尿酸水平低。胸部CT示胸腺发育不良。基因测序发现患儿PNP基因存在c.722T>C(p.I 241T)纯合变异,其父母均为该变异携带者。患儿确诊为PNPD,于2岁3月龄死于多脏器严重感染。文献检索到78例PNPD病例,发病无性别差异,发生反复感染53例,神经功能障碍51例,自身免疫病21例,继发肿瘤性疾病6例。结论对反复感染、神经功能障碍、自身免疫性疾病、CD^(4+)/CD8+T细胞比值降低、血尿酸水平低的患儿,需考虑基因缺陷致免疫缺陷病可能,基因序列分析可协助早期诊断。Objective To explore the clinical characteristics and immunophenotype of childhood purine nucleoside phosphorylase deficiency(PNPD)induced by PNP gene mutation.Methods clinical data from a case with PNPD in Hainan People’s Hospital was retrospectively analyzed,and related literature was reviewed.Results A 21-month-old boy was admitted to hospital because of“pallor for more than 2 months,fever and cough for one day”.He had suffered from recurrent respiratory infection and motor retardation.Laboratory examination showed that hemoglobin level was 88 g/L,reticulocyte hemoglobin percentage was 11.35%,Coomb’s test was positive,CD 4+/CD^(8+)T cell ratio(0.32)was low,and blood uric acid was low.Chest CT indicated thymic dysplasia.Gene sequencing analysis identified a homozygous mutations of c.722 T>c(p.I 241 T)in PNP gene which inherited from his parents.He was diagnosed with PNPD and died of a severe multi-organ infection at the age of 2 years and 3 months old.Literature search found 78 children with PNPD,prevalence had no significant difference between males and females.Of them,53 had repeated infections,51 had abnormal nerve function,21 had autoimmune disease,and 6 had secondary neoplastic diseases.Conclusion Children with recurrent infection,neurological dysfunction,autoimmune diseases,decreased CD 4+/CD^(8+)T cell ratio,and low uric acid level should be considered the possibility of immunodeficiency caused by PNP gene deficiency.Gene sequence analysis could assist early diagnosis.

关 键 词：PNP基因 嘌呤核苷磷酸化酶缺乏症 免疫缺陷病 

分 类 号：R725.9[医药卫生—儿科]