Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Sep 2;62(9):888-890.
doi: 10.3760/cma.j.cn112140-20240117-00058.

[A case of renal hypodysplasia and aplasia-1 associated with ITGA8 gene variation]

[Article in Chinese]
X Zhang  1 , G M Cui  1 , G J Luo  2 , H F Ban  1 , F Li  1 , W Deng  1 , Y B Wang  1 , Q Sun  1
Affiliations
Case Reports

[A case of renal hypodysplasia and aplasia-1 associated with ITGA8 gene variation]

[Article in Chinese]
X Zhang et al. Zhonghua Er Ke Za Zhi. .

Abstract

患儿 男，4岁，因“腹痛10余天，发现肾功能异常6 d”就诊。主要临床特点为先天性单肾、肾功能不全、面容特殊和生长发育落后。患儿母亲2次胚胎停育流产史，患儿有1姐姐6月龄时死亡。基因检测示ITGA8基因母源性c.333dup（p.Asp112Terfs*1）及父源性c.2888dup（p.Asn963Lysfs*2）复合杂合变异，根据美国医学遗传学与基因组学学会指南，分别评级为致病性变异和可能致病变异。结合临床表现和基因检测结果诊断为ITGA8基因变异相关肾发育不良和发育不全1型。.

PubMed Disclaimer

Publication types

LinkOut - more resources