Renal Tubular Dysgenesis Associated with Compound Heterozygous ACE Mutations  

作　　者：Yiran Liu Xueyan Wang 

机构地区：[1]Chongqing Health Center for Women and Children,120 LongShan Road,Yubei District,Chongqing 401147,China

出　　处：《Journal of Clinical and Nursing Research》2021年第2期108-112,共5页临床护理研究（英文）

摘　　要：Inherited renal tubular dysgenesis(RTD),a rare,autosomal recessive disorder is caused by mutations in the genes encoding components of the renin-angiotensin pathway:angiotensinogen(AGT),renin(REN),angiotensin-converting enzyme(ACE),and angiotensinΙΙreceptor type 1(AGTR1).It characterized by the absence or poor development of renal tubules,and associated with oligohydramnios,Potter sequence and neonatal death due to renal or respiratory failure.We report a family with two mutations in the coding region of the ACE gene:a nonsense mutation in exon4(c.538C>T)and a frameshift deletion at nucleotide 3073 and nucleotide 3074 in exon20(c.3073_3074delTC).The mutations were in the compound heterozygous state causing disease,because each parent had their own mutation.

关 键 词：Genetic counseling OLIGOHYDRAMNIOS Prenatal diagnosis 

分 类 号：R54[医药卫生—心血管疾病]