https://scholars.lib.ntu.edu.tw/handle/123456789/596959
標題: | PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports | 作者: | Chang, Yu-Ming Chen, Chih-Chia NI-CHUNG LEE Sung, Junne-Ming Chou, Yen-Yin Chiou, Yuan-Yow |
關鍵字: | PAX2; chronic kidney disease (CKD); congenital anomalies of kidney and urinary tract (CAKUT); renal coloboma syndrome; renal hypodysplasia | 公開日期: | 2021 | 出版社: | FRONTIERS MEDIA SA | 卷: | 9 | 來源出版物: | Frontiers in pediatrics | 摘要: | 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 related disorders may have been underestimated in past studies. With improved genetic sequencing techniques, more genetic abnormalities are being detected than ever before. Here, we report three patients from two families with PAX2 mutations identified within 1 year. Two patients were adults with chronic kidney disease and were followed for decades without correct diagnoses, including one with ESRD who had even undergone kidney transplant. The third patient was a neonate in whom PAX2-related disorder manifested as oligohydramnios, coloboma, and renal failure that progressed to ESRD within 1 year after birth. The phenotypes of PAX2 gene mutation were shown to be highly variable, even within the same family. Early detection promoted genetic counseling and guided clinical management. The appropriate time point for genetic study is an important issue. Clinicians must be more alert for PAX2 mutation when facing patients with congenital kidney and urinary tract anomalies, chronic kidney disease of unknown etiology, involvement of multiple systems, and/or a family history of renal disease. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/596959 | ISSN: | 2296-2360 | DOI: | 10.3389/fped.2021.765929 |
顯示於: | 醫學系 |
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