Zobrazeno 1 - 10
of 236
pro vyhledávání: '"renal coloboma syndrome"'
Autor:
Kumar Digvijay, Grazia Maria Virzi, Diego Pomarè Montin, Lucas Gobetti da Luz, Maryam Momeni Taramsari, Ashwani Gupta, Manish Malik, Anurag Gupta, Vinant Bhargava, Meenakshi Verma, Claudio Ronco, Devinder Singh Rana, Anil Kumar Bhalla
Publikováno v:
Kidney and Dialysis, Vol 3, Iss 3, Pp 255-264 (2023)
The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dom
Externí odkaz:
https://doaj.org/article/d0beaef8bd0549dda3dd2a7d69835efa
Autor:
S. Shanmuga Jayanthan, Rajagopal Ganesh, Narayanan Karunakaran, T. Mukuntharajan, A. Nancy Manodoss, Karan Dedhia, K. Nadanasadharam
Publikováno v:
Indian Journal of Radiology and Imaging, Vol 33, Iss 02, Pp 260-263 (2023)
Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome. People with this condition typically have kidneys that are small and underdeveloped (hypod
Externí odkaz:
https://doaj.org/article/1d0cff868b6d4cfa91c93b2ae10679ef
Publikováno v:
罕见病研究, Vol 1, Iss 3, Pp 325-328 (2022)
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure. The boy has suff
Externí odkaz:
https://doaj.org/article/6d91df6cceee4ba8a24e6ef1193f88e8
Autor:
Xue Yang, Yaqi Li, Ye Fang, Hua Shi, Tianchao Xiang, Jiaojiao Liu, Jialu Liu, Xiaoshan Tang, Xiaoyan Fang, Jing Chen, Yihui Zhai, Qian Shen, Yunli Bi, Yanyan Qian, Bingbing Wu, Huijun Wang, Wenhao Zhou, Duan Ma, Haitao Bai, Jianhua Mao, Lizhi Chen, Xiaowen Wang, Xiaojie Gao, Ruifeng Zhang, Jieqiu Zhuang, Aihua Zhang, Xiaoyun Jiang, Hong Xu, Jia Rao
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis.
Externí odkaz:
https://doaj.org/article/8899d41f183342d5afdd1a32a630a7c5
Akademický článek
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Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 10, Iss 3, Pp 163-173 (2020)
Oligomeganephronic hypoplasia, commonly referred to as oligomeganephronia (OMN), is a rare pediatric disorder characterized by small kidneys. Histologically a paucity of nephrons is observed which show compensatory enlargement. Hyperfiltration injury
Externí odkaz:
https://doaj.org/article/4d756b9b8f6f42e597c27771149bb0ae
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2022)
Paired box 2 (PAX2)-related disorder is an autosomal dominant genetic disorder associated with kidney and eye abnormalities and can result in end stage renal disease (ESRD). Despite reported low prevalence of PAX2 mutations, the prevalence of PAX2 re
Externí odkaz:
https://doaj.org/article/54c5a925fa54487bab5138f269a03a1c
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract This report suggests that self‐resolving oligohydramnios is an early sign of malfunctioning kidney in individuals with renal coloboma syndrome (RCS) and demonstrates how a genetic diagnosis can impact patient and fetal management as it out
Externí odkaz:
https://doaj.org/article/b66b7283a099403984eb3ec4b19457e3
Akademický článek
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Autor:
Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Xiaoyu Liu, Baige Su, Hongwen Zhang, Ke Xu, Suxia Wang, Fang Wang, Jie Ding
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background The aim of this study was to analyze the diverse phenotypes of children with PAX2‐related disorder so as to improve our understanding of this disease. Methods The clinical data of ten children with PAX2 mutations, detected by ta
Externí odkaz:
https://doaj.org/article/bea31eb025434dc88769646902c71d03