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肾母细胞瘤的产前表现

Antenatal Presentation of Wilms' Tumor.

作者信息

Ogawa Shellee, Schlaepfer Charles H, Weaver John, Meenakshi-Sundaram Bhalaajee, Coplen Douglas, Rove Kyle O, Vricella Gino J

机构信息

Division of Urology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO.

Division of Urology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO.

出版信息

Urology. 2019 Dec;134:225-227. doi: 10.1016/j.urology.2019.08.011. Epub 2019 Aug 14.

Abstract

Tumors discovered antenatally are rare and the prognosis is generally poor. We present a case of a fetal left renal mass, initially discovered via routine prenatal ultrasound. The mother was an otherwise healthy gravida 4 para one 30-year-old female with 2 previous miscarriages, reportedly secondary to septate uterus. Further imaging and subsequent genetic testing was consistent with an antenatal Wilms' tumor with a mutation in the NPHP1 gene. The newborn received chemotherapy and had no evidence of recurrence at 3 months follow-up.

摘要

产前发现的肿瘤很罕见,预后通常很差。我们报告一例胎儿左肾肿块病例,最初是通过常规产前超声发现的。母亲是一名30岁、孕4产1的健康女性,之前有过2次流产,据说是由于纵隔子宫所致。进一步的影像学检查和随后的基因检测结果与产前肾母细胞瘤一致,且NPHP1基因存在突变。新生儿接受了化疗,在3个月的随访中没有复发迹象。

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