病例01(2023):以代谢病为主要表现的新生儿狼疮综合征1例  

Case 01(2023):Neonatal lupus syndrome manifested by metabolic disease:a case report

作　　者：李俊廷 唐晓娟[1] 王来栓 王华 陈正[4] 侯阿娜[5] 陈友国[6] 李珉[6] 黄沁[6] 孙芳璨 韩冰[6] 丁欣[1] Li Junting;Tang Xiaojuan;Wang Laishuan;Wang Hua;Chen Zheng;Hou Ana;Chen Youguo;Li Min;Huang Qin;Sun Fangcan;Han Bing;Ding Xin(Department of Neonatology,Children's Hospital of Soochow University,Suzhou 215025,China;Department of Neonatology,the Children's Hospital of Fudan University,Shanghai 201102,China;Department of Neonatology,West China Medical Center,Sichuan University,Chengdu 610044,China;Department of Neonatology,Children's Hospital of Zhejiang University School of Medicine,Hangzhou 310003,China;Department of Neonatology,Shengjing Hospital of China Medical University,Shenyang 110001,China;Department of Obstetrics and Gynecology,the First Affiliated Hospital of Soochow University,Suzhou 215006,China)

机构地区：[1]苏州大学附属儿童医院新生儿科,苏州215025 [2]复旦大学附属儿科医院新生儿科,上海201102 [3]四川大学华西医学中心新生儿科,成都610044 [4]浙江大学附属儿童医院新生儿科,杭州310003 [5]中国医科大学附属盛京医院新生儿科,沈阳110001 [6]苏州大学附属第一医院妇产科,苏州215006

出　　处：《中华围产医学杂志》2023年第11期950-954,共5页Chinese Journal of Perinatal Medicine

摘　　要：本文报道1例以代谢病为主要表现的新生儿狼疮综合征病例。患儿因反应差伴呕吐1 d就诊于苏州大学附属儿童医院,患儿表现为皮肤花纹、前囟饱满和血白细胞计数增多,提示新生儿败血症可能,遗传代谢病筛查显示赖氨酸尿性蛋白耐受不良不排除。患儿及其母亲和姐姐狼疮相关自身抗体与抗核抗体阳性,患儿赖氨酸尿性蛋白耐受不良相关基因SCL7A7无功能性变异,故确诊以代谢病为主要表现的新生儿狼疮综合征。予甲泼尼龙治疗,效果显著,复查血遗传代谢指标无特异性变化,出院后每月随访复查抗体滴度下降。This paper reports a case of neonatal lupus syndrome manifested by metabolic disease.A male neonate was admitted to the Children's Hospital of Soochow University due to poor response and vomiting for 1 day.Based on the clinical symptoms,including the patterned skin and a full anterior fontanelle,and a result of leukocytosis,neonatal sepsis was considered.Lysinuric protein intolerance was not excluded from the genetic metabolic disorders screening.The patient was positive for lupus-related autoantibodies and antinuclear antibodies,which were also found in his mother and elder sister.He had no functional variant of the SCL7A7 gene,a gene related to lysinuric protein intolerance,thereby the diagnosis of neonatal lupus syndrome manifested by metabolic disorders was confirmed.After treatment with methylprednisolone,the patient recovered well with no specific change in blood genetic metabolism at re-examination.Monthly follow-up after discharge found decreased antibody titers.

关 键 词：代谢疾病 红斑狼疮 系统性 氨基酸代谢障碍 先天性 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]