Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype–phenotype association study

作     者：Ying-Fei Shao Hong Wang Yi-Xiu Wang Le-Ping Shao Sai Wang Ying-Fei Shao;Hong Wang;Yi-Xiu Wang;Le-Ping Shao;Sai Wang

作者机构：Renji College of Wenzhou Medical UniversityWenzhouChina Department of NephrologyThe Affiliated Qingdao Municipal Hospital of Qingdao UniversityNo.5 Donghai Middle RoadQingdao266071China Laboratory of Renal DiseaseQingdaoChina Department of NephrologyEighth People’s Hospital of QingdaoQingdaoChina Darpartment of Hepatic SurgeryShanghai Cancer CenterShanghai Medical CollegeFudan UniversityShanghaiChina Department of DermatologyPeking University First HospitalBeijingChina 

出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)

年 卷 期：2023年第19卷第2期

页      面：200-207页

核心收录：

学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学] 

基　　金：National Natural Science Foundation of China(No.81873594). 

主　　题：diagnosis diarrhea congenital 

摘      要：Congenital chloride diarrhea(CCD;OMIM 214700)is an intestinal disease of an electrolyte defect characterized by dilated bowel loops,maternal polyhydramnios,premature birth,and lack of infant meconium[l].The incidence of CCD is variable worldwide.Most cases are sporadic;however,there are three high-incidence areas,Finland,Poland,and Saudi Arabia.In addition,large genetic heterogeneity has been reported in about 300 sporadic patients with CCD from other ethnic groups[2-4].Undiagnosed or untreated CCD can be lethal within the first year of life,but with adequate treatment,patients are usually able to survive into adulthood[5,6].