超声联合全外显子组测序诊断胎儿期先天性失氯性腹泻1例  

Ultrasound combined with whole-exome sequencing for the diagnosis of fetal congenital chloride diarrhea:a case report

作　　者：史龙飞 龙湘党[1] 姚穗[2] 文琼莉 钟刚 陈萱 习永芳 Shi Longfei;Long Xiangdang;Yao Sui;Wen Qiongli;Zhong Gang;Chen Xuan;Xi Yongfang(Department of Ultrasound,the First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital),Changsha 410005,China;Department of Obstetrics,the First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital),Changsha 410005,China)

机构地区：[1]湖南师范大学附属第一医院(湖南省人民医院)超声医学科,长沙410005 [2]湖南师范大学附属第一医院(湖南省人民医院)产科,长沙410005

出　　处：《中华围产医学杂志》2025年第1期74-76,共3页Chinese Journal of Perinatal Medicine

摘　　要：本文报道了1例产前超声提示胎儿先天性失氯性腹泻(congenital chloride diarrhea,CCD)并经全外显子组测序确诊的病例。孕26周+2常规产前超声检查发现胎儿肠管扩张、羊水内较多漂浮光点,提示CCD可能。孕晚期多次复查超声示胎儿肠管扩张,羊水过多伴大量漂浮的强回声点,胎儿发育大于孕周。全外显子组测序及Sanger验证发现胎儿SLC26A3基因存在2个复合杂合变异,分别为c.2006C>A(p.S669^(*))(母源)及c.1355T>A(p.L452Q)(父源),胎儿确诊为CCD。患儿出生后表现为持续水样腹泻。基于产前超声及基因测序结果,患儿生后立即予以静脉注射及口服补充电解质,未出现严重的电解质失衡。截至2024年6月,患儿已5月龄,随访其生长、发育良好。This paper reported a case of fetal congenital chloride diarrhea(CCD)indicated by prenatal ultrasound and confirmed by whole-exome sequencing.At 26 weeks and two days of gestation,a routine prenatal ultrasound revealed fetal bowel dilation and numerous floating echogenic particles in the amniotic fluid,suggesting the possibility of CCD.Multiple follow-up ultrasounds in late pregnancy showed persistent bowel dilation,polyhydramnios with numerous floating echogenic particles,and fetal development larger than the gestational age.Whole-exome sequencing and Sanger validation revealed two compound heterozygous mutations in the fetal SLC26A3 gene:c.2006C>A(p.S669^(*))inherited from the mother and c.1355T>A(p.L452Q)inherited from the father,leading to a diagnosis of CCD.Postnatally,the infant exhibited persistent watery diarrhea.Based on prenatal ultrasound and diagnostic results,the infant was immediately given intravenous and oral electrolyte supplementation after birth,preventing severe electrolyte imbalance.As of June 2024,the infant was five months old,with follow-up showing good growth and development.

关 键 词：超声 全外显子组测序 先天性失氯性腹泻 SLC26A3基因 

分 类 号：R445.1[医药卫生—影像医学与核医学] R714.5[医药卫生—诊断学]