Article
A case of Potter sequence with WT1 mutation.
CEN case reports - 1 May 2023
Yoshino Miwa, Shimabukuro Wataru, Takeichi Mina, Omura Junya, Yokota Chie, Yamamoto Junko, Nakanishi Koichi, Morisada Naoya, Nozu Kandai, Iijima Kazumoto, Takahashi Yasuhiko
Abstract excerpt
Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure develops after birth. We report an unusual case of Potter sequence due to fetal nephropathy and kidney failure with a WT1 mutation. The neonate was born at 37 weeks of gestation, and had no distinctive facial appearance or anomalies of the extremities. The external genitalia were ambiguous....
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