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Abstract：
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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：先天性肾脏和泌尿道异常（CAKUT）是儿童终末期肾病的主要原因。由于其遗传和表型异质性，通过基因检测进行诊断已被证明具有挑战性，以及不完整的外显率。我们报告了一例16个月大的女性，有肾囊肿和PAX2突变的病史。
方法：患者产前诊断为Potter序列，产后诊断为肾囊肿。妊娠20周时的超声检查显示右肾发育不全和可能的左肾发育不良。出生后遗传分析鉴定了PAX2中的新突变。
结论：囊性肾病由于其不同的表达和广泛的临床表现而常常被诊断不足；所有CAKUT患者都应考虑进行PAX2基因筛查。
方法：患者产前诊断为Potter序列，产后诊断为肾囊肿。妊娠20周时的超声检查显示右肾发育不全和可能的左肾发育不良。出生后遗传分析鉴定了PAX2中的新突变。
结论：囊性肾病由于其不同的表达和广泛的临床表现而常常被诊断不足；所有CAKUT患者都应考虑进行PAX2基因筛查。
