14例钠牛磺胆酸共转运多肽缺陷病患儿的临床特征及基因分析  

Clinical features of 14 pediatric patients with sodium taurocholate cotransporting polypeptide deficiency disease and their gene analysis

作　　者：黄芳利 邓寅业[1] 赖武超 吴丹 谭文海 莫海浦 代艳[1] HUANG Fangli;DENG Yinye;LAI Wuchao;WU Dan;TAN Wenhai;MO Haipu;DAI Yan(Department of Pediatrics,the People′s Hospital of Guangxi Zhuang Autonomous Region(Guangxi Academy of Medical Sciences),Nanning 530021,China)

机构地区：[1]广西壮族自治区人民医院(广西医学科学院)儿科,南宁530021

出　　处：《中国临床新医学》2025年第3期263-267,共5页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

基　　金：广西卫生健康委员会自筹经费科研课题(编号:Z-A20230153)。

摘　　要：目的总结14例钠牛磺胆酸共转运多肽(NTCP)缺陷病患儿的临床特征及相关基因突变和遗传情况,提高临床医师对儿童NTCP缺陷病的认识。方法收集2021年10月至2024年10月在广西壮族自治区人民医院经基因分析诊断为NTCP缺陷病患儿的临床资料,对其临床表现、实验室检测和基因分析结果进行描述性统计分析。结果共有14例患儿诊断为NTCP缺陷病,首发症状皮肤黄染4例,体检/住院发现总胆汁酸升高10例,体格检查发现肝脏肿大3例。所有患儿均检测出SLC10A1基因变异(c.800C>T,p.Ser267Phe)(chr14:70245193,NM_003049),均为纯合变异。4例合并其他基因缺陷,其中1例合并BLVRA基因杂合变异(c.119T>C),1例合并HBA2基因杂合变异(c.427T>C),1例合并G6PD基因半合子变异(c.95A>G),1例合并G6PD基因半合子变异(c.1376G>T)。结论14例NTCP缺陷病患儿均出现总胆汁酸升高,均检测出SLC10A1纯合变异,对持续性总胆汁酸升高患儿应尽可能完善基因检测,尽早明确诊断及治疗,从而改善患儿的生活质量及预后。Objective To summarize the clinical features,related gene mutations and genetic status of 14 pediatric patients with sodium taurocholate cotransporting polypeptide(NTCP)deficiency disease and to improve clinicians′understanding of NTCP deficiency disease in children.Methods The clinical manifestations,laboratory tests and gene analysis results in the pediatric patients who underwent gene analysis and were diagnosed with NTCP deficiency disease in the People′s Hospital of Guangxi Zhuang Autonomous Region from October 2021 to October 2024 were collected for descriptive statistical analysis.Results A total of 14 pediatric patients were diagnosed with NTCP deficiency disease,with the initial symptom of jaundice manifesting through yellow skin in 4 cases,elevated total bile acids found during physical examination/hospitalization in 10 cases,and liver enlargement found during physical examination in 3 cases.All the pediatric patients were detected to have SLC10A1 gene variants(c.800C>T,p.Ser267Phe)(chr14:70245193,NM_003049).All the pediatric patients had homozygous variants,and 4 pediatric patients were complicated with other genetic defects,among whom 1 patient was complicated with BLVRA gene heterozygous variants(c.119T>C),1 patient with HBA2 gene heterozygous variants(c.427T>C),1 patient with G6PD gene hemizygote variants(c.95A>G),and 1 patient with G6PD gene hemizygote variants(c.1376G>T).Conclusion All the 14 pediatric patients with NTCP deficiency disease show an increase in total bile acids and are detected to have homozygous variants in SLC10A1.For the pediatric patients with persistent elevation of total bile acids,genetic testing should be perfected as much as possible to definite diagnosis and treatment as early as possible,thereby improving the pediatric patients′quality of life and prognosis.

关 键 词：钠牛磺胆酸共转运多肽缺陷病 钠牛磺胆酸共转运多肽 总胆汁酸 SLC10A1基因 

分 类 号：R725.7[医药卫生—儿科]