Chinese Journal of Child Health Care ›› 2022, Vol. 30 ›› Issue (7): 697-701.DOI: 10.11852/zgetbjzz2022-0657

• Professional Forum •     Next Articles

Clinical characteristics and neonatal early combined screening practice of primary immunodeficiency disease and spinal muscular atrophy

YANG Ru-lai   

  1. Department of Genetics and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,National Children's Regional Medical Center,Hangzhou,Zhejiang 310052, China
  • Received:2022-05-26 Revised:2022-06-05 Online:2022-07-10 Published:2022-07-25



  1. 浙江大学医学院附属儿童医院遗传与代谢科 国家儿童健康与疾病临床医学研究中心,国家儿童区域医疗中心,浙江 杭州 310052
  • 作者简介:杨茹莱(1963-),女,浙江人,主任医师,学士学位,主要研究方向为儿童保健、新生儿遗传性疾病筛诊治及管理。
  • 基金资助:
    浙江省重点研发项目(2021C03099);国家重点研发计划(2018YFC1002700 )

Abstract: Primary immunodeficiency disease (PID) and spinal muscular atrophy (SMA) are genetic birth defects caused by gene mutations that seriously affect children's health and even lead to death.Early detection,timely diagnosis and treatment are the key to better prognosis.Neonatal screening is an effective means to achieve early diagnosis and intervention.In recent years,neonatal screening in some countries and regions have included SMA,severe combined immunodeficiency disease (SCID) (the most severe disease of PID) and X-linked aglobulinemia (XLA) (the most common B-cell deficiency disease of PID).Zhejiang province is the first in China to carry out neonatal combined screening for SCID,XLA and SMA,which has greatly increased screening efficiency,advanced tertiary prevention of birth defects,significantly improved the prognosis of patients,enhanced their quality of life and reduced mortality.

Key words: primary immunodeficiency disease, severe combined immunodeficiency, X-linked agammaglobulinemia, spinal muscular atrophy, newborns, combined screening

摘要: 原发性免疫缺陷病(PID)及脊髓性肌萎缩症(SMA)均是由基因突变引起的能严重影响儿童健康甚至导致死亡的遗传性出生缺陷,早期发现和及时诊断治疗是影响预后的关键,新生儿筛查是目前实现早期诊断和干预的有效手段。近年来部分国家和地区已将SMA和PID中最为严重的重症联合免疫缺陷病(SCID)和最常见的B细胞缺乏症X连锁无丙种球蛋白血症(XLA)纳入新生儿筛查范围。浙江省在国内首次开展对SCID、XLA和SMA三种遗传性疾病的新生儿早期联合筛查实践,极大地提高了筛查效率,使出生缺陷三级预防关口前移,有助于显著改善患者的预后、提高生活质量、降低死亡率。

关键词: 原发性免疫缺陷病, 重症联合免疫缺陷病, X连锁无丙种球蛋白血症, 脊髓性肌萎缩症, 新生儿, 联合筛查

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