与多囊肾病有关的新 PAX2 基因突变：病例报告

IF 18 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2021-03-05 eCollection Date: 2021-01-01 DOI:10.1177/1179556521992354

Jessica Maria Forero-Delgadillo, Vanessa Ochoa, Natalia Duque, Jaime Manuel Restrepo, Hernando Londoño, Jose Antonio Nastasi-Catanese, Harry Pachajoa

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摘要

背景：先天性肾脏和泌尿道异常（CAKUT）是导致儿童终末期肾病的主要原因。由于其遗传和表型的异质性以及不完全的渗透性，通过基因检测进行诊断已被证明具有挑战性。我们报告了一例 16 个月大的女性患者，她有肾囊肿病史和 PAX2 基因突变：患者产前诊断为波特序列，产后诊断为肾囊肿。妊娠 20 周时的超声波检查发现右肾发育不全，左肾可能发育不良。产后基因分析发现 PAX2 存在新型突变：结论：由于囊性肾病的表现形式多变，临床表现范围广泛，因此往往诊断不足；所有 CAKUT 患者都应考虑进行 PAX2 基因筛查。

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New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a PAX2 mutation.

Case presentation: The patient presented with a prenatal diagnosis of Potter sequence and a postnatal diagnosis of renal cysts. An ultrasound at 20 weeks gestation revealed right renal agenesis and possible left renal dysplasia. Post natal genetic analyses identified a novel mutation in PAX2.

Conclusion: Cystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations; PAX2 genetic screening should be considered for all patients with CAKUT.

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.