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.
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。