Advances in genetic research on congenital ureteropelvic junction obstruction
10.3760/cma.j.cn101070-20240715-00442
- VernacularTitle:先天性肾盂输尿管连接部梗阻的遗传学研究进展
- Author:
Yingfu LIN
1
;
Jie DONG
1
;
Chao CHEN
1
Author Information
1. 广西医科大学第一附属医院小儿外科，南宁 530021
- Publication Type:Journal Article
- Keywords:
Ureteropelvic junction obstruction, congenital;
Genetics;
Gene mutation;
Non-coding RNA;
DNA sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(4):303-307
- CountryChina
- Language:Chinese
-
Abstract:
Congenital ureteropelvic junction obstruction (UPJO) is the most prevalent cause of hydronephrosis in newborns, with an incidence rate ranging from approximately 1/2 000 to 1/750.UPJO is caused by a complex interplay of embryological, environmental and genetic factors, among which genetic factors play a particularly significant role.In recent years, advancements in genetic research methodologies have facilitated the identification of numerous suspected pathogenic genes and variant sites associated with UPJO, which provides clues for clarifying the etiology and pathogenesis of UPJO.In this paper, a comprehensive review of findings from single gene mutation analyses, linkage studies, association studies and DNA sequencing studies pertaining to UPJO was made, and current genetic findings were summarized.The efforts in this study lay an important basis for elucidating the mechanisms underlying UPJO and implementing strategies for early diagnosis and intervention.
