常染色体隐性遗传性肾小管发育不全：产前超声扫描与分子研究
Autosomal recessive renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations.
作者信息
Liu Yang, Luo Caiqun, Wu Xiaoxia, Chen Liyuan, Cao Xiushu, Wang Hui
机构信息
Medical Genetic Center.
Maternal-Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong, China.
出版信息
Clin Dysmorphol. 2024 Dec 6;34(2):37-43. doi: 10.1097/MCD.0000000000000511.
OBJECTIVE
This study aimed to elucidate the fetal ultrasound characteristics, pathology, and molecular genetic etiology of autosomal recessive tubular dysplasia.
METHODS
This retrospective study examined four fetuses with autosomal recessive tubular dysplasia (ARRTD) from two pregnancies, utilizing ultrasound evaluations and fetal renal pathology. Whole-exome sequencing-copy number variation analysis was employed to identify gene mutations.
RESULTS
We present for the first time renal vascular resistance in fetuses with ARRTD, characterized by increased renal blood flow resistance and reversed diastolic blood flow, indicating fetal renal insufficiency. This is the first report of a nonsense mutation (C.571C>T) found in the angiotensinogen gene.
CONCLUSION
ARRTD disease should be strongly suspected when ultrasound examinations reveal increased renal blood flow resistance, oligohydramnios, and inadequate bladder filling, regardless of the presence of renal abnormalities.
目的
本研究旨在阐明常染色体隐性肾小管发育不良的胎儿超声特征、病理学及分子遗传学病因。
方法
本回顾性研究对来自两次妊娠的4例常染色体隐性肾小管发育不良（ARRTD）胎儿进行了检查，采用超声评估和胎儿肾脏病理学检查。运用全外显子组测序-拷贝数变异分析来识别基因突变。
结果
我们首次展示了ARRTD胎儿的肾血管阻力，其特征为肾血流阻力增加和舒张期血流逆转，提示胎儿肾功能不全。这是首次报道在血管紧张素原基因中发现无义突变（C.571C>T）。
结论
当超声检查显示肾血流阻力增加、羊水过少及膀胱充盈不足时，无论是否存在肾脏异常，均应高度怀疑ARRTD疾病。
Zotero 插件