重症联合免疫缺陷新生儿筛查阳性患儿的诊断与免疫重建和再生育专家共识  

Expert consensus on diagnosis,immunoreconstruction,and reproduction for infants with positive newborn screening of severe combined immunodeficiency

作　　者：中国优生科学协会妇幼健康管理分会 上海市免疫学会儿科免疫分会 陈同辛[2,3] 田国力[4,5] 韩连书 金莹莹[7] 孙路明[8] 周辰[9] Expert consensus on diagnosis,immunoreconstruction,and reproduction for infants with positive newborn screening of severe combined immunodeficiency;Shanghai Society for Immunology,Pediatric Immunology Branch;Chen Tongxin;Tian Guoli

机构地区：[1]不详 [2]上海交通大学医学院附属上海儿童医学中心转化所 [3]上海交通大学医学院附属上海儿童医学中心福建医院过敏/免疫科 [4]上海市儿童医院 [5]上海交通大学医学院附属儿童医院新生儿筛查中心 [6]上海交通大学医学院附属新华医院儿内分泌遗传代谢科 [7]上海交通大学医学院附属上海儿童医学中心风湿/免疫科 [8]同济大学附属上海第一妇婴保健院产前诊断中心/胎儿医学科 [9]上海交通大学医学院附属上海儿童医学中心血液肿瘤科

出　　处：《中华实用儿科临床杂志》2024年第4期245-253,共9页Chinese Journal of Applied Clinical Pediatrics

摘　　要：重症联合免疫缺陷(SCID)起病年龄早,是免疫出生错误中最严重的一种,是儿科急症,延迟识别和检测会造成致命的后果(大都在<2岁死亡),也会降低造血干细胞移植(HSCT)成功率。SCID新生儿筛查可促进患儿在未出现临床症状之前的早期诊断,但目前国内SCID的新生儿筛查尚未广泛开展,筛查阳性的患儿不能及时被诊断,延迟了HSCT的时间。为此中国优生科学协会妇幼健康管理分会和上海市免疫学会儿科免疫分会组织新生儿筛查、血液、免疫、感染、产科和检验学领域的专家,综合国内外文献,从SCID的新生儿筛查原理和流程、筛查阳性患儿的诊断流程和方法以及HSCT和家庭再生育等方面提出36条诊疗建议。本共识是我国第1部有关SCID的新生儿筛查和筛查阳性患儿诊断和干预共识,目的是早期发现SCID患儿,促进出生后3.5个月内、无症状患儿的早期救治,以提高SCID生存率和降低SCID出生率。Severe combined immunodeficiency(SCID)is a pediatric medical emergency with early onset in life.As the most severe form of inborn error of immunity,SCID is generally fatal with most cases resulting in death before the age of 2 unless recognized and treated.Additionally,it diminishes the success rate of hematopoietic stem cell transplantation(HSCT).Newborn screening for SCID can facilitate early diagnosis before clinical symptoms emerge.However,the current implementation of SCID newborn screening in China is not widespread,causing a delay in diagnosing infants with positive screening results and subsequently delaying the timing of HSCT.To address this issue,the China Healthy Birth Science Association,Maternal and Child Health Management Branch and Shanghai Society for Immunology,Pediatric Immunology Branch,organized a multidisciplinary team of experts in newborn screening,hematology,immunology,infectious diseases,obstetrics,and laboratory medicine.By integrating domestic and international literature,they formulated 36 diagnostic and therapeutic recommendations covering the principles and processes of SCID newborn screening,the diagnostic procedures for infants with positive screening results,as well as aspects of HSCT and family planning.This consensus represents the first domestic initiative on SCID newborn screening,diagnosis,and intervention for infants with positive screening results.The aim is to facilitate early diagnosis of SCID,promote early treatment for asymptomatic infants within 3.5 months,and improve the survival rates of SCID while reducing its birth rate.

关 键 词：重症联合免疫缺陷 新生儿筛查 T细胞受体基因切除环 造血干细胞移植 再生育 共识 

分 类 号：R722.1[医药卫生—儿科]