与多囊肾病相关的新PAX2突变：一例报告
New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.
作者信息
Forero-Delgadillo Jessica Maria, Ochoa Vanessa, Duque Natalia, Restrepo Jaime Manuel, Londoño Hernando, Nastasi-Catanese Jose Antonio, Pachajoa Harry
机构信息
Pediatric Nephrology Fellow, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia.
Medical student, Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
出版信息
Clin Med Insights Pediatr. 2021 Mar 5;15:1179556521992354. doi: 10.1177/1179556521992354. eCollection 2021.
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 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 .
CONCLUSION
Cystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations; genetic screening should be considered for all patients with CAKUT.
背景
先天性肾和尿路畸形（CAKUT）是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外显率，通过基因检测进行诊断已被证明具有挑战性。我们报告一例16个月大的女性病例，该患者有肾囊肿病史且存在一种突变。
病例介绍
该患者产前诊断为波特序列征，产后诊断为肾囊肿。妊娠20周时的超声检查显示右肾缺如和可能的左肾发育异常。产后基因分析在……中发现了一种新的突变。
结论
由于其可变的表达性和广泛的临床表现，多囊肾病常常诊断不足；对于所有CAKUT患者都应考虑进行基因筛查。
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